scholarly journals Taurodontism in dental genetics

BDJ Open ◽  
2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Manogari Chetty ◽  
Imaan A. Roomaney ◽  
Peter Beighton
Keyword(s):  
South Africa ◽  
Molecular Level ◽  
Genetic Disorders ◽  
Molecular Pathways ◽  
Genetic Syndromes ◽  
Pulp Chamber ◽  
Thin Bone ◽  
Apical Displacement ◽  
Dental Environment ◽  
Winchester Syndrome

AbstractTaurodontism is a dental anomaly defined by enlargement of the pulp chamber of multirooted teeth with apical displacement of the pulp floor and bifurcation of the roots. Taurodontism can be an isolated trait or part of a syndrome. A study was conducted to document the dental and craniofacial aspects of genetic thin bone disorders in South Africa. Sixty-four individuals with Osteogenesis imperfecta (OI), one individual with Pyle disease and one with Torg-Winchester syndrome respectively, were assessed clinically, radiographically and at a molecular level. Ten patients with OI XI and those with Pyle disease and Torg-Winchester syndrome had taurodontism. Taurodontism has been identified in several genetic disorders necessitating cognizance of the possible existence and implications of this characteristic when managing patients in the dental environment. Further studies should be directed toward identifying the incidence, etiology, and molecular pathways leading to taurodontism and its relationship to genetic syndromes.

Taurodontismo – Série de casos em pacientes jovens não sindrômicos e sindrômicos associado à hipodontia

2021 ◽  
Vol 12 (47) ◽  
pp. 76-83
Author(s):  
Renato Barcellos Rédua ◽  
Giuliane Ribeiro Viana ◽  
Maryana Heinze Sechim
Keyword(s):  
Down Syndrome ◽  
Klinefelter Syndrome ◽  
Case Reports ◽  
Genetic Disorders ◽  
Pulp Chamber ◽  
Orthodontic Anchorage ◽  
Down Syndrome Patient ◽  
Morphological Pattern ◽  
Ruminant Animals ◽  
Apical Displacement

Several human dentition developmental anomalies are reported in the literature. The etiology of these occurrences is related to genetic, environmental or sometimes idiopathic factors. Taurodontism is defined as apical displacement of the pulp floor and consequent enlargement of the pulp chamber in multiradicular teeth. It is a result of the failure to invaginate Hertwigs epithelial sheath horizontally and commonly expresses bilaterally. This morphological pattern of molars is observed in ruminant animals and was also found in ancient Neanderthals. Association of this condition to syndromes is not exclusive, it may be associated with genetic disorders such as Down Syndrome, Klinefelter Syndrome, among others. The diagnosis is exclusively radiographic, with no alterations in the dental element crown. Among the consequences is the complexity of endodontic treatment, greater fragility of taurodontic teeth submitted to endodontics and lower orthodontic anchorage of these elements. In this paper, three case reports of patients with taurodontism are described, two of them associated with hypodontia and one in a Down Syndrome patient. This paper also includes a literature review and discussion with the main clinical implications of this occurrence.

Self-injurious behaviour as part of genetic syndromes

1998 ◽  
Vol 172 (5) ◽  
pp. 385-388 ◽  
Author(s):  
Shoumitro Deb
Keyword(s):  
Causal Relationship ◽  
Critical Appraisal ◽  
Genetic Disorders ◽  
The Self ◽  
Genetic Syndromes ◽  
Specificity And Sensitivity ◽  
Broader Phenotype ◽  
The Subject

BackgroundThe purpose of this paper is to review the association between genetic syndromes and self-injurious behaviour.MethodThe information available from the literature on the subject of self-injurious behaviours and genetic syndromes was collated and presented with a critical appraisal.ResultsSelf-injurious behaviours are associated with some genetic syndromes. However, the causal relationship between the genetic syndromes and the self-injurious behaviour remains far from clear.ConclusionsAlthough self-injurious behaviour has been shown to be the part of a broader phenotype in many genetic disorders, the specificity and sensitivity of these behaviours in this context remain unclear.

scholarly journals Diagnostic use of facial image analysis software in endocrine and genetic disorders: review, current results and future perspectives

2015 ◽  
Vol 173 (4) ◽  
pp. M39-M44 ◽  
Author(s):  
R P Kosilek ◽  
R Frohner ◽  
R P Würtz ◽  
C M Berr ◽  
J Schopohl ◽  
...  
Keyword(s):  
Image Analysis ◽  
Binary Classification ◽  
Genetic Disorders ◽  
Disease Onset ◽  
Image Texture ◽  
Medical Setting ◽  
Future Perspectives ◽  
Genetic Syndromes ◽  
Pilot Studies ◽  
Ongoing Research

Cushing's syndrome (CS) and acromegaly are endocrine diseases that are currently diagnosed with a delay of several years from disease onset. Novel diagnostic approaches and increased awareness among physicians are needed. Face classification technology has recently been introduced as a promising diagnostic tool for CS and acromegaly in pilot studies. It has also been used to classify various genetic syndromes using regular facial photographs. The authors provide a basic explanation of the technology, review available literature regarding its use in a medical setting, and discuss possible future developments. The method the authors have employed in previous studies uses standardized frontal and profile facial photographs for classification. Image analysis is based on applying mathematical functions evaluating geometry and image texture to a grid of nodes semi-automatically placed on relevant facial structures, yielding a binary classification result. Ongoing research focuses on improving diagnostic algorithms of this method and bringing it closer to clinical use. Regarding future perspectives, the authors propose an online interface that facilitates submission of patient data for analysis and retrieval of results as a possible model for clinical application.

scholarly journals Spinal Osteosarcoma

2013 ◽  
Vol 7 ◽  
pp. CMO.S10099 ◽  
Author(s):  
P. Katonis ◽  
G. Datsis ◽  
A. Karantanas ◽  
A. Kampouroglou ◽  
S. Lianoudakis ◽  
...  
Keyword(s):  
Adjuvant Radiotherapy ◽  
Molecular Level ◽  
Genetic Disorders ◽  
Diagnostic Procedures ◽  
Tumor Removal ◽  
Primary Bone Tumor ◽  
Histopathological Classification ◽  
Genetic Complexity ◽  
Primary Bone ◽  
Almost All

Although osteosarcoma represents the second most common primary bone tumor, spinal involvement is rare, accounting for 3%–5% of all osteosarcomas. The most frequent symptom of osteosarcoma is pain, which appears in almost all patients, whereas more than 70% exhibit neurologic deficit. At a molecular level, it is a tumor of great genetic complexity and several genetic disorders have been associated with its appearance. Early diagnosis and careful surgical staging are the most important factors in accomplishing sufficient management. Even though overall prognosis remains poor, en-block tumor removal combined with adjuvant radiotherapy and chemotherapy is currently the treatment of choice. This paper outlines histopathological classification, epidemiology, diagnostic procedures, and current concepts of management of spinal osteosarcoma.

scholarly journals Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

2021 ◽  
Keyword(s):  
Male Infertility ◽  
Chromosomal Abnormalities ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Unexplained Infertility ◽  
Next Generation ◽  
Genetic Syndromes ◽  
Infertile Men ◽  
Genetic Abnormalities ◽  
Chromosomal Aneuploidies

Background and objectives: Recent investigations have reported more than 70 genetic syndromes involved in male infertility; however, the majority of these syndromes are extremely rare. We aimed to report the most common chromosomal abnormalities and associated rare genetic syndromes in the context of human male infertility. Materials and Methods: We performed a review of published articles considering the most common chromosomal aneuploidies and rare genetic syndromes associated with male infertility on PubMed, Web of Science, and Scopus. Results: Chromosomal abnormalities are frequently found in infertile men, with an incidence rate of 2-15%. The chromosomal aberrations include the sex and autosomal chromosome abnormalities, as well as numerical and structural defects in chromosomes. There are various rare genetic syndromes involved in male infertility that are caused by structural and numerical abnormalities in chromosomes. Klinefelter syndrome is the most common type of sex chromosome aneuploidy in infertile males. Besides, Y chromosome microdeletions, particularly in azoospermia factor regions, serve as the second most common genetic cause of impaired spermatogenetic in infertile men. These molecular genetic abnormalities not only can be inherited, but also they may transmit to the next generation through assisted reproductive techniques and result in the birth of boys with higher risk of congenital abnormalities and infertility. Despite the normal secondary male sexual characteristics, some patients are azoospermic or severe oligozoospermic men. Therefore, identification of these molecular genetic factors and rare genetic disorders is essential in men with unexplained infertility. Discussion and conclusion: Since most of molecular genetic abnormalities can be transmitted to the next generation, identification of these rare genetic disorders is crucial for men with unexplained infertility. It is also essential for clinicians and physicians of reproductive medicine and andrologists to initiate genetic evaluation, aneuploidy screening and counseling prior to any therapeutic procedures.

scholarly journals The High Transmission of SARS-CoV-2 Omicron (B.1.1.529) Variant is Not Only Due to Its hACE2 binding: A Free Energy of Perturbation Study

2021 ◽  
Author(s):  
Filip Fratev
Keyword(s):  
South Africa ◽  
Free Energy ◽  
Molecular Level ◽  
Binding Capacity ◽  
Spike Protein ◽  
Structural Basis ◽  
New Variant ◽  
Alpha Variant ◽  
Special Circumstances ◽  
Interaction Surface

AbstractThe mutations in the spike protein of SARS-CoV-2 Omicron variant (B.1.1.529 lineage) gave rise to questions, but the data on the mechanism of action at the molecular level is limited. In this study, we present the Free energy of perturbation (FEP) data about the RBD-hACE2 binding of this new variant.We identified two groups of mutations located close to the most contributing substitutions Q498R and Q493R, which altered significantly the RBD-hACE2 interactions. The Q498R, Y505H and G496S mutations, in addition to N501Y, highly increased the binding to hACE2. They enhanced the binding by 98, 14 and 13 folds, respectively, which transforms the S1-RBD to a picomolar binder. However, in contrast to the case in mice the Q493R/K mutations, in a combination with K417N and T478K, dramatically reduced the S1 RBD binding by over 100 folds. The N440K, G446S and T478K substitutions had lesser contribution. Thus, the total effect of these nine mutations located on the interaction surface of RBD-hACE2 turns out to be similar to that observed in the Alpha variant. In a special circumstances it could be further altered by the E484A and S477N mutations and even lower binding capacity is likely to be detected. Finally, we provide a structural basis of the observed changes in the interactions.These data may explain only partially the observed in South Africa extremely high Omicron spread and is in support to the hypothesis for multiple mechanisms of actions involved in the transmission.Graphical abstract

scholarly journals The N501Y and K417N mutations in the spike protein of SARS-CoV-2 alter the interactions with both hACE2 and human derived antibody: A Free energy of perturbation study

2020 ◽  
Author(s):  
Filip Fratev
Keyword(s):  
South Africa ◽  
Immune Response ◽  
Free Energy ◽  
Molecular Level ◽  
Spike Protein ◽  
Free Energy Perturbation ◽  
Receptor Binding Domain ◽  
Human Immune Response ◽  
Human Immune ◽  
Energy Perturbation

AbstractThe N501Y and K417N mutations in spike protein of SARS-CoV-2 and their combination arise questions but the data about their mechanism of action at molecular level is limited. Here, we present Free energy perturbation (FEP) calculations for the interactions of the spike S1 receptor binding domain (RBD) with both the ACE2 receptor and an antibody derived from COVID-19 patients. Our results shown that the S1 RBD-ACE2 interactions were significantly increased whereas those with the STE90-C11 antibody dramatically decreased; about over 100 times. The K417N mutation had much more pronounced effect and in a combination with N501Y fully abolished the antibody effect. This may explain the observed in UK and South Africa more spread of the virus but also raise an important question about the possible human immune response and the success of already available vaccines.

scholarly journals Down syndrome with co-occurring Marfan syndrome

2020 ◽  
Vol 13 (9) ◽  
pp. e235988
Author(s):  
Miao Wei ◽  
Natasha Lepore ◽  
Kelli Paulsen ◽  
Jonathan D Santoro
Keyword(s):  
Down Syndrome ◽  
Medical Care ◽  
Marfan Syndrome ◽  
Trisomy 21 ◽  
Genetic Disorders ◽  
Close Monitoring ◽  
Genetic Syndromes ◽  
Organ Systems ◽  
Fibrillin 1 ◽  
Musculoskeletal Systems

Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are variable, resulting in mixed and dominant expressions of particular features. We present the first adolescent case of trisomy 21 associated DS and fibrillin-1 gene associated MFS in the literature who had a height at 90th percentile for an 11-year old boy and discuss the implications of this case in terms of future medical care when these two genetic syndromes are present in the same individual. Understanding of certain features of the ‘non-dominating’ syndrome is crucial for clinicians to recognise when DS co-occurs with MFS. Close monitoring of the cardiovascular, ophthalmologic and musculoskeletal systems is recommended if both syndromes are diagnosed given that both can be independently associated with disorders in these organ systems.

Oral manifestations of genetic and congenital diseases

2015 ◽  
Vol 61 (1) ◽  
pp. 107-111
Author(s):  
Andreea Dona Iordan-Dumitru ◽  
◽  
Rodica Luca ◽  
Keyword(s):  
Medical Records ◽  
Cleft Lip ◽  
Genetic Disorders ◽  
Hospitalized Patients ◽  
Facial Dysmorphism ◽  
Oral Manifestations ◽  
Dental Anomalies ◽  
Genetic Syndromes ◽  
Congenital Diseases ◽  
Mandibular Hypoplasia

Aim. Highlighting the oral manifestations seen in various genetic syndromes and congenital patients hospitalized in a pediatric hospital in Bucharest (Romania). Methods. Retrospective study using medical records of pediatric patients (age = 1 day – 18 years) admitted for a period of three years (1.01.2010-31.12.2012). We selected only the medical records of patients diagnosed with genetic disorders and birth defects (GDD) of which were selected diseases that were associated with oral manifestations (OM). Were established for the whole lot and, separately, for each year: OM disease prevalence, age of first hospitalization, type OM, OM distribution by gender. Data were processed with the program Informatic Hypocrate/DRG. Results. Out of the 25213 hospitalized patients, 2216 (8, 78%) have GDD, between that 78 (3.51%) have been associated with OM. Anual distribution: 2010 – 9226 hospitalized patients, 730 (7.91%) GDD, between that 28 (3.83%) with OM; 2011 – 8,136 hospitalized patients, 769 (9.45%) GDD, between that 23 (2.99%) with OM; 2012 – 7,851 hospitalized patients, 717 (9.13%) GDD, between that 27 (3.76%) with OM. At 36 (46.15%) among patients with OM associated with GDD, age at first hospitalization was between one day-one year. The most frequent cases (23.07%) was cleft lip or palate and was associated with facial dysmorphism and mental retardation. In 20.51% of cases were associated with dental Anomalies of number and structure, in 11, 53% cases – Dental Anomalies of shapes, in 8.97% cases of micro/macroglossia. In a few cases met: mandibular hypoplasia and mucocutaneous. There were no differences between the two sexes. Conclusions. A great variety of OM was found in about 3.51% of hospitalized patients with GDD. Most of them were cleft lip or palate and required multidisciplinary intervention at very early age.

Sign in / Sign up

Export Citation Format

Share Document