-
Orphanet Journal of Rare Diseases Oct 2022The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to... (Review)
Review
OBJECTIVE
The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.
METHODS
The systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis statement. We systematically searched PubMed, Web of Science, Scopus, Scielo, LILACS, EBSCOhost and Embase databases up to 6 January 2022. We included articles describing patients with any type of ectodermal dysplasia who received orthodontic or dentofacial orthopedic treatment to facilitate functional and aesthetic oral rehabilitation. The search was not restricted by language or year of publication. The quality of the studies was assessed using the Joanna Briggs Institute Quality Assessment Scale of the University of Adelaide for case series and case reports. The review was registered at the University of York Centre for reviews (CRD42021288030).
RESULTS
Of the initial 403 studies found, 29 met the inclusion criteria. After applying the quality scale, 23 were left for review-21 case reports and 2 case series. The initial age of patients ranged from 34 months to 24 years. Thirteen studies were on hypohidrotic and/or anhidrotic ectodermal dysplasia, of which two were X-chromosome linked. In one study, the patient had Wiktop syndrome, and in nine the type of ectodermal dysplasia was not specified. The duration of treatment was 7 weeks to 10 years. The treatments described were: fixed orthodontic appliances or simple acrylic plates designed for tooth movement, including leveling and aligning, closing of diastemata, retraction of impacted teeth in the dental arch; clear aligners; fixed and/or removable appliances for the correction of skeletal and/or dentoalveolar relationships; palatal expanders in combination with face masks for orthopedic traction of the maxilla; and orthognathic surgery. Only three studies provided cephalometric data.
CONCLUSION
The level of evidence of the articles reviewed was low and most orthopedic and dentofacial orthodontic treatments described were focused on correcting dental malpositioning and jaw asymmetries and not on stimulating growth from an early age. Studies with greater scientific evidence are needed to determine the best treatment for these patients.
Topics: Child, Preschool; Ectodermal Dysplasia; Ectodermal Dysplasia 1, Anhidrotic; Humans; Tooth Movement Techniques
PubMed: 36253866
DOI: 10.1186/s13023-022-02533-0 -
Technology and Health Care : Official... 2023Dental implants provide a suitable and reliable treatment for the replacement of missing teeth. Very few studies have been reported in the literature regarding the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Dental implants provide a suitable and reliable treatment for the replacement of missing teeth. Very few studies have been reported in the literature regarding the application of dental implants in growing and developing patients.
OBJECTIVE
This systematic review with meta-analysis aimed to systematically review the available literature regarding the application of dental implants in growing and developing patients.
METHODS
A detailed search in the literature was performed with the help of keywords such as dental implants, treatment planning, children, adolescents, growing patients, and developing jaws. PubMed, Scopus, Web of Sciences, and Ovidsp databases were searched for papers published between 1980 and 2021. The papers focused on children, adolescents, developing jaws, and implants. In this systemic review, the dataset concerned with the type of study, aim, number of patients and specimens included, age of patients, total number of implants placed, total number of implants evaluated, medical history of developmental disorders of teeth such as ectodermal dysplasia, congenital absence of teeth, were evaluated.
RESULTS
Out of the total literature searched, 33.45% of studies and case reports documented no complications in any implant treatment. In 47.21% of studies and case reports, there was both success and failure of implants while in 13.21% of studies and case reports there was a complete failure of implants. The most common cause for loss of permanent teeth in growing children and adolescent patients was dental trauma (73.13%) followed by congenital developmental disturbance of teeth (18.19%).
CONCLUSION
It can be concluded from this systematic review that the use of implants in edentulous growing patients is determined by several parameters, including the patient's overall health, the stage of jaw growth, the number of teeth to be replaced, and soft and hard tissue anatomic features. Still, the use of a conservative treatment strategy for missing teeth management in patients with developing jaws is common and recommended until the patient's growth is completed, as there are chances of changes in the position of dental implants placed in the developing and growing jaws due to the continuous changes taking place in their body. However, placement of implants can be done in these patients successfully with proper treatment planning and taking into account the phase of growth with proper follow-up.
Topics: Child; Adolescent; Humans; Jaw, Edentulous, Partially; Dental Implants; Maxilla; Mandible
PubMed: 36502352
DOI: 10.3233/THC-220581 -
Neurology India 2022Different variant of GBM has been reported viz. Epithelioid Glioblastoma (GBM-E), Rhabdoid GBM (GBM-R), Small cell GBM (GBM-SC), Giant cell GBM (GBM-GC), GBM with neuro...
OBJECTIVES
Different variant of GBM has been reported viz. Epithelioid Glioblastoma (GBM-E), Rhabdoid GBM (GBM-R), Small cell GBM (GBM-SC), Giant cell GBM (GBM-GC), GBM with neuro ectodermal differentiation (GBM-PNET) with unknown behavior.
MATERIALS
We conducted a systematic review and individual patient data analysis of these rare GBM variants. We searched PubMed, google search, and Cochrane library for eligible studies till July 1 2016 published in English language and collected data regarding age, sex, subtype and treatment received, Progression Free Survival (PFS), Overall Survival (OS). Statistical Package for social sciences (SPSS) v16 software was used for all statistical analysis.
RESULTS
We retrieved data of 196 patients with rare GBM subtypes. Among these GBM-GC is commonest (51%), followed by GBM-R (19%), GBM-PNET (13%), GBM-SC (9%) and GBM-E (8%). Median age at diagnosis was 38, 40, 43.5, 69.5 and 18 years, respectively. Male: female ratio was 2:1 for GBM-E, and 1:3 for GBM-SC. Maximal safe resection followed by adjuvant local radiation was used for most of the patients. However, 6 patients with GBM-PNET, 3 each of GBM-E, GBM-SC received adjuvant craniospinal radiation. Out of 88 patients who received chemotherapy, 64 received Temozolomide alone or combination chemotherapy containing Temozolomide. Median PFS and OS for the entire cohort were 9 and 16 months. In univariate analysis, patient with a Gross Total Resection had significantly better PFS and OS compared to those with a Sub Total Resection [23 vs. 13 months (p-0.01)]. Median OS for GBM PNET, GBM-GC, GBM-SC, GBM-R and GBM-E were 32, 18.3, 11, 12 and 7.7 months, respectively (P = 0.001). Interestingly, 31.3%, 37.8% of patients with GBM-E, GBM-R had CSF dissemination.
CONCLUSION
Overall cohort of rarer GBM variant has equivalent survival compared to GBM not otherwise specified. However, epithelioid and Rhabdoid GBM has worst survival and one third shows CSF dissemination.
Topics: Humans; Male; Female; Glioblastoma; Temozolomide; Data Analysis; Brain Neoplasms; Retrospective Studies; Neuroectodermal Tumors, Primitive; Antineoplastic Agents, Alkylating
PubMed: 36352613
DOI: 10.4103/0028-3886.359222 -
Journal of Clinical and Experimental... Apr 2023The bone growth factor was a conditioning circumstance that limited the use of implants in children and adolescents, which, in cases of anodontia or severe oligodontia,... (Review)
Review
BACKGROUND
The bone growth factor was a conditioning circumstance that limited the use of implants in children and adolescents, which, in cases of anodontia or severe oligodontia, forced pediatric dentists to abandon their use, leaving children with removable prostheses, at an age and in a social context with increasingly functional and esthetic demands. Purpose. The objective is to assess which variables influence the survival of dental implants in pediatric patients with severe agenesis.
MATERIAL AND METHODS
A search was carried out in the Pubmed, Scopus and Web of Science databases, which was completed with a manual search.
RESULTS
The following variables were extracted from the selected studies: author and year, number of patients or cases described, age, gender, number of implants, follow-up time, implanted area, percentage of success or failure, medical and dental history of the patients, type of treatment and study design.
CONCLUSIONS
The use of implants as a treatment at an early age has been a controversial issue. Using the appropriate preventive measures, the clinician can offer the child or adolescent a better life quality, esthetics and functionality, until the growth completion period allows for more complex and extensive rehabilitative treatments. A success rate of 89.8% was established for these implants, with no association with follow-up time or type of implant used. The highest survival rates were reported in the anterior mandibular region. Pediatric dentistry, ectodermal dysplasia, anodontia, oligodontia and dental implant.
PubMed: 37152493
DOI: 10.4317/jced.60168 -
European Journal of Medical Research Jul 2023Dental pulp stem cells (DPSCs) are adult stem cells with multi-directional differentiation potential derived from ectoderm. Vitro experiments have shown that adding... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Dental pulp stem cells (DPSCs) are adult stem cells with multi-directional differentiation potential derived from ectoderm. Vitro experiments have shown that adding cytokines can help DPSCs to be transformed from multipotent stem cells to osteoblasts. TGF-β has been proved to have an effect on the proliferation and mineralization of bone tissue, but its effect on the osteogenesis and proliferation of dental pulp stem cells is still uncertain. We aim to determine the effect of TGF-β on the osteogenesis and proliferation of dental pulp stem cells.
METHODS
We have identified studies from the Cochrane Central Register of Controlled Trials, PubMed, Embase, and China national knowledge infrastructure (CNKI) for studies interested in TGF-β and proliferation and differentiation of dental pulp stem cells in the following indicators: A490 (an index for evaluating cell proliferation), bone sialoprotein (BSP), Col plasmid-1 (Col-1), osteocalcin (OCN), runt-related transcription factor 2 (Runx-2); and the number of mineralized nodules. Any language restrictions were rejected. Furthermore, we drew a forest plot for each outcome. We conducted a sensitivity analysis, data analysis, heterogeneity, and publication bias test. We evaluate the quality of each study under the guidance of Cochrane's tool for quality assessment.
RESULTS
The pooled data showed that TGF-β could promote the proliferation and ossification of dental pulp stem cells. All the included results support this conclusion except for the number of mineralized nodules: TGF-β increases the A490 index (SMD 3.11, 95% CI [0.54-5.69]), promotes the production of BSP (SMD 3.11, 95% CI [0.81-6.77]), promotes the expression of Col-1 (SMD 4.71, 95% CI [1.25-8.16]) and Runx-2 (SMD 3.37, 95% CI [- 0.63 to 7.36]), increases the content of OCN (SMD 4.32, 95% CI [1.20-7.44]) in dental pulp, and has no significant effect on the number of mineralized nodules (SMD 3.87, 95% CI [- 1.76 to 9.51]) in dental pulp stem cells.
CONCLUSIONS
TGF-β promotes the proliferation and osteogenesis of dental pulp stem cells.
Topics: Humans; Cell Differentiation; Cell Proliferation; Cells, Cultured; Dental Pulp; Osteogenesis; Stem Cells; Transforming Growth Factor beta
PubMed: 37501191
DOI: 10.1186/s40001-023-01227-y -
Human Immunology Aug 2016Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune... (Review)
Review
Autoimmune Regulator (AIRE) is a transcriptional regulator that is crucial for establishing central tolerance as illustrated by the Mendelian Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) syndrome associated with AIRE-inactivating recessive or dominant mutations. Polymorphisms in AIRE have been proposed to be implicated in genetic susceptibility to non-Mendelian organ specific autoimmune diseases. Because there is evidence that in predisposition to Graves' disease (GD) central tolerance is crucial, we investigated whether AIRE polymorphisms could modulate risk of GD. A case-control association study using 29 variants and conducted in 150 GD patients and 200 controls did not detect any significant association. This result is not exceptional: a systematic review of the literature, including GWAS, on the association of AIRE variants with organ specific autoimmune diseases did not show clear associations; similarly heterozygous recessive mutations are not associated to non-Mendelian autoimmunity. Dominant negative mutations of AIRE are associated to autoimmunity but as mild forms of APECED rather than to non-Mendelian organ specific autoimmunity. The lack of association of common AIRE polymorphisms with polygenic autoimmune diseases is counterintuitive as many other genes less relevant for immunological tolerance have been found to be associated. These findings give rise to the intriguing possibility that evolution has excluded functionally modifying polymorphisms in AIRE.
Topics: Animals; Autoimmune Diseases; Female; Gene Frequency; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Graves Disease; Humans; Immunity; Male; Mutation; Polymorphism, Genetic; Population Groups; Transcription Factors; AIRE Protein
PubMed: 27266815
DOI: 10.1016/j.humimm.2016.06.002 -
Dentistry Journal Dec 2023The aim of this systematic review was to describe the clinical and genetic features of syndromes showing oligodontia as a sign. The review was performed according to the... (Review)
Review
The aim of this systematic review was to describe the clinical and genetic features of syndromes showing oligodontia as a sign. The review was performed according to the PRISMA 2020 checklist guidelines, and the search was conducted using PubMed, Scopus, Lilacs, Web of science, Livivo, and EMBASE and supplemented by a gray literature search on Google Scholar and ProQuest, applying key terms relevant to the research questions. The systematic review identified 47 types of syndromes in 83 studies, and the most common was hypohidrotic ectodermal dysplasia, which was reported in 24 patients in 22 studies. Other common syndromes that reported oligodontia included Axenfeld-Rieger syndrome, Witkop's syndrome, Ellis-van Creveld syndrome, blepharocheilodontic syndrome, and oculofaciocardiodental syndrome. The X-linked mode of inheritance was the most reported (n = 13 studies), followed by the autosomal dominant (n = 13 studies). The review describes the main syndromes that may have oligodontia as a clinical sign and reinforces the need for orodental-facial examining for adequate diagnosis and treatment of the affected patients. Molecular analysis in order to better understand the occurrence of oligodontia is imperative.
PubMed: 38132417
DOI: 10.3390/dj11120279 -
Journal of Pediatric Surgery Jul 2019Carmi syndrome is a rare genetic disorder characterized by junctional epidermolysis bullosa (JEB) and pyloric atresia (PA). We reviewed the clinicopathologic and...
PURPOSE
Carmi syndrome is a rare genetic disorder characterized by junctional epidermolysis bullosa (JEB) and pyloric atresia (PA). We reviewed the clinicopathologic and molecular features of patients with Carmi syndrome to identify predictors of clinical outcome and guide surgical PA repair.
METHODS
A PRISMA-compliant systematic literature review of PubMed, CINAHL, and the Cochrane Library was performed.
RESULTS
63 original studies including a total of 100 patients were included. PA type 1 and 2 were equally prevalent (47.2%, 95% CI: 34.4-60.3). Heineke-Mikulicz pyloroplasty (96%, 95% CI: 78.8-99) and gastroduodenostomy (72%, 95% CI: 52.2-85.9) were the most common type 1 and 2 PA repairs, respectively. Seventy lethal cases were identified (74.5%, 95% CI: 64.8-83.5). Of the 73 patients that received an operation, 49 died (67.1%, 95% CI: 55.7-76.8) and 24 survived (32.9%, 95% CI: 23.2-44.3). Integrin α6β4 expression was absent or markedly reduced in lethal cases. Integrin α6, plectin-1, cephalic integrin β4 (exon 3 to intron 11), and premature termination codon mutations were also associated with poor prognosis.
CONCLUSIONS
Although Carmi syndrome typically has poor prognosis, 1 in 4 patients exhibits nonlethal phenotypes. Immunofluorescence mapping and genetic consultation can guide surgical intervention and provide valuable family planning information.
EVIDENCE RATING/CLASSIFICATION
Prognosis study, Level IV.
Topics: Ectodermal Dysplasia; Genetic Counseling; Humans; Infant, Newborn; Introns; Mutation; Phenotype; Prognosis
PubMed: 29935895
DOI: 10.1016/j.jpedsurg.2018.05.019 -
American Journal of Medical Genetics.... Apr 2020The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three...
The objective of this study was to review the published literature on X-linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis. A systematic search of English-language articles was conducted in May 2019 to identify publications with information on any of the three features of XLHED. We excluded studies with five or fewer participants, that did not specify X-linked inheritance or an EDA mutation, and discussed only management of features. The weighted means for total missing teeth, location of missing teeth, prevalence of reduced and absent sweating ability, and sparse or absent hair were analyzed across all studies. Additional findings for hypodontia, hypohidrosis, and hypotrichosis were summarized qualitatively. Twenty publications (18 studies) were accepted. Reported findings for males tended to be more informative than for carrier females. The weighted mean for missing teeth for affected males was 22.4 (range: 10-28) and carrier females was 3.4 (range: 0-22). The most common conserved teeth for males were the canines. The most common missing teeth for females were the maxillary lateral incisors. The weighted mean prevalence of reduced or absent sweating ability was 95.7% for males and 71.6% for females. The weighted mean prevalence for hypotrichosis was 88.1% for males and 61.6% for females. This systematic review provides insight into the prevalence, characteristics, and variability of the three classic features of XLHED. These findings provide detailed natural history information for families with XLHED as well as key characteristics that can aid in diagnosis.
Topics: Ectodermal Dysplasia 1, Anhidrotic; Humans; Hypohidrosis; Hypotrichosis; Prognosis
PubMed: 31981414
DOI: 10.1002/ajmg.a.61493 -
Journal of Oral & Maxillofacial Research 2016To systematically review the influence of systemic diseases or medications used in their treatment on the dental implant therapy success. (Review)
Review
OBJECTIVES
To systematically review the influence of systemic diseases or medications used in their treatment on the dental implant therapy success.
MATERIAL AND METHODS
The search strategy was implemented on the National Library of Medicine database (MEDLINE) (Ovid) and EMBASE electronic databases between January 2006 and January 2016. Human studies with available English articles analysing the relationship between dental implant therapy success and systemic diseases, such as diabetes mellitus, AIDS/HIV, rheumatoid arthritis, osteoporosis, Crohn's disease, cardiovascular diseases, scleroderma, Sjögren's syndrome, lichen planus, ectodermal dysplasia, post-transplantation status, were included in present review according to the PRISMA guidelines. The review protocol was registered on PROSPERO system with the code CRD42016033662.
RESULTS
Present review included forty one retrospective and prospective follow-up studies, case-control studies, case report series and cohort studies. Despite some limitations this study reveals positive results of implantation in most systemic conditions that should be interpreted with caution. Influence of cardiovascular diseases on the dental implantation success should be explored deeply, because of controversial results and likelihood of comorbidity expressed by a history of cardiovascular diseases and periodontitis. There is only a weak relationship with bone density in osteoporosis and implant failure. All the other diseases did not show significant effect on implantation success.
CONCLUSIONS
Recent studies with low strength of evidence and controversy show that systemic diseases may have potential effect on the success of implantation, but further detailed studies are needed to provide these findings.
PubMed: 27833730
DOI: 10.5037/jomr.2016.7305