scholarly journals Craniofacial shape in patients with beta thalassaemia: a geometric morphometric analysis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Petros Roussos ◽  
Anastasia Mitsea ◽  
Demetrios Halazonetis ◽  
Iosif Sifakakis

AbstractThe shape of the craniofacial complex of patients with beta thalassaemia was evaluated using geometric morphometrics on lateral cephalometric radiographs and was compared with matched controls. The beta thalassaemia group consisted of 40 patients (16 females, 24 males, mean age 33.4). Each patient was matched by age and gender to two controls (32 females, 48 males, mean age 33.1). The 120 lateral cephalometric radiographs were digitized and traced with 15 curves, 10 landmarks and 117 sliding semi-landmarks. These landmarks were subjected to Procrustes superimposition and principal component analysis in order to describe shape variability of the cranial base, maxilla and mandible, as well as of the entire craniofacial complex for each sex. The first 4 principal components accounted for 50% of the total sample’s variability. The beta thalassaemia group was significantly different in overall shape to the control group for both sexes. Similar findings were noted for the maxilla, the mandible and the cranial base. The main differences were related to smaller mandibular body for the thalassaemia group, midface protrusion and decrease in posterior face height. The shape of the craniofacial complex in these patients is prone to be more convex and hyperdivergent.

Author(s):  
Agnieszka Jurek ◽  
Dariusz Gozdowski ◽  
Ewa Monika Czochrowska ◽  
Małgorzata Zadurska

Congenital missing teeth (OMIM #106600) is the most common dental abnormality. The aim of the study was to evaluate the effects of tooth agenesis on the total mandibular length, length of the mandibular body and alveolar process, and the mandibular anteroposterior position. The material was obtained from the Department of Orthodontics, Medical University of Warsaw. The study group included 116 patients aged 9–18 years with a congenital absence of at least two permanent tooth buds in the maxilla and/or mandible (mean: 6.2 teeth missing/patient). All patients were Caucasians: 68 (59%) females and 48 (41%) males. The control group included 115 patients without tooth agenesis matched with the age and gender of the study group. A cephalometric analysis was performed, and it was focused on assessing anteroposterior mandibular measurements. This assessment was based on 17 measurements (12 linear and 5 angular). Statistical analysis of the cephalometric measurements between the study group and the control group showed significant changes regarding selected mandibular measurements. Tooth agenesis does not affect the total length of the mandible and the length of the mandibular body, but it might reduce the length of the mandibular arch length and result in a more retrusive mandibular position.


Sexual Abuse ◽  
2015 ◽  
Vol 30 (1) ◽  
pp. 3-22 ◽  
Author(s):  
Anna Konrad ◽  
Laura F. Kuhle ◽  
Till Amelung ◽  
Klaus M. Beier

Although emotional congruence with children (ECWC) is a risk factor for sexual offending against children, its conceptual validity has hardly been researched. This study aims to explore the construct of ECWC by evaluating the factor structure of the Child Identification Scale (CIS-R) and its relation to facets of sexual preference and child sexual abuse behaviors. It was hypothesized that the measure comprises consistent subscales that are differently associated with aspects of sexual preference and sexual offending against children. CIS-R data of a sample of 217 adult male pedophiles from the community were used for an exploratory principal component analysis (PCA). Group comparisons and a multinomial logistic regression analysis were conducted after including a non-pedophilic control group of 22 adult men. PCA revealed a three-factor solution for the CIS-R accounting for 30% of variance. Group comparisons found differences in overall scores and the factor labeled “Attachment to Children” between subgroups of sexual age and gender preference, but not between contact, online, and non-offenders. The regression analysis showed a pedophile sexual preference and the interaction between a hebephile sexual age preference and the factor “Attachment to Children” being associated with past offending behavior. The results indicate a wish to attach to children as core feature of the CIS-R measure assessing ECWC. It is discussed whether this is an inherent feature of pedophilia or rather an independent aspect being differently distinct in pedophiles.


2021 ◽  
pp. jmedgenet-2021-107695
Author(s):  
Konstantinia Almpani ◽  
Denise K. Liberton ◽  
Priyam Jani ◽  
Cyrus Keyvanfar ◽  
Rashmi Mishra ◽  
...  

BackgroundElevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). In this study, we provide a qualitative and quantitative analysis of the craniofacial and functional features among the LDS subtypes and SGS.MethodsWe explore the variability within and across a cohort of 44 patients through deep clinical phenotyping, three-dimensional (3D) facial photo surface analysis, cephalometric and geometric morphometric analyses of cone-beam CT scans.ResultsThe most common craniofacial features detected in this cohort include mandibular retrognathism (84%), flat midface projection (84%), abnormal eye shape (73%), low-set ears (73%), abnormal nose (66%) and lip shape (64%), hypertelorism (41%) and a relatively high prevalence of nystagmus/strabismus (43%), temporomandibular joint disorders (38%) and obstructive sleep apnoea (23%). 3D cephalometric analysis demonstrated an increased cranial base angle with shortened anterior cranial base and underdevelopment of the maxilla and mandible, with evidence of a reduced pharyngeal airway in 55% of those analysed. Geometric morphometric analysis confirmed that the greatest craniofacial shape variation was among patients with LDS type 2, with distinct clustering of patients with SGS.ConclusionsThis comprehensive phenotypic approach identifies developmental abnormalities that segregate to mutation variants along the TGF-β signalling pathway, with a particularly severe phenotype associated with TGFBR2 and SKI mutations. Multimodality assessment of craniofacial anomalies objectively reveals the impact of mutations of the TGF-β pathway with perturbations associated with the cranium and cranial base with severe downstream effects on the orbit, maxilla and mandible with the resultant clinical phenotypes.


2016 ◽  
Author(s):  
Jens N Lallensack ◽  
Anneke H van Heteren ◽  
Oliver Wings

A profound understanding of the influence of trackmaker anatomy, foot movements and substrate properties is crucial for any interpretation of fossil tracks. In this case study we analyze variability of footprint shape within one large theropod (T3), one medium-sized theropod (T2) and one ornithopod (I1) trackway from the Lower Cretaceous of Münchehagen (Lower Saxony, Germany) in order to determine the informativeness of individual features and measurements for ichnotaxonomy, trackmaker identification, and the discrimination between left and right footprints. Landmark analysis is employed based on interpretative outline drawings derived from photogrammetric data, allowing for the location of variability within the footprint and the assessment of covariation of separate footprint parts. Objective methods to define the margins of a footprint are tested and shown to be sufficiently accurate to reproduce the most important results. The lateral hypex and the heel are the most variable regions in the two theropod trackways. As indicated by principal component analysis, a posterior shift of the lateral hypex is correlated with an anterior shift of the margin of the heel. This pattern is less pronounced in the ornithopod trackway, indicating that variation patterns can differ in separate trackways. In all trackways, hypices vary independently from each other, rendering their relative position a questionable feature for ichnotaxonomic purposes. Most criteria commonly employed to differentiate between left and right footprints assigned to theropods are found to be reasonably reliable. The described ornithopod footprints are asymmetrical, again allowing for a left-right differentiation. Strikingly, 12 out of 19 measured footprints of the T2 trackway are stepped over the trackway midline, rendering the trackway pattern a misleading left-right criterion for this trackway. Traditional measurements were unable to differentiate between the theropod and the ornithopod trackways. Geometric morphometric analysis reveals potential for improvement of existing discriminant methods.


2016 ◽  
Author(s):  
Jens N Lallensack ◽  
Anneke H van Heteren ◽  
Oliver Wings

A profound understanding of the influence of trackmaker anatomy, foot movements and substrate properties is crucial for any interpretation of fossil tracks. In this case study we analyze variability of footprint shape within one large theropod (T3), one medium-sized theropod (T2) and one ornithopod (I1) trackway from the Lower Cretaceous of Münchehagen (Lower Saxony, Germany) in order to determine the informativeness of individual features and measurements for ichnotaxonomy, trackmaker identification, and the discrimination between left and right footprints. Landmark analysis is employed based on interpretative outline drawings derived from photogrammetric data, allowing for the location of variability within the footprint and the assessment of covariation of separate footprint parts. Objective methods to define the margins of a footprint are tested and shown to be sufficiently accurate to reproduce the most important results. The lateral hypex and the heel are the most variable regions in the two theropod trackways. As indicated by principal component analysis, a posterior shift of the lateral hypex is correlated with an anterior shift of the margin of the heel. This pattern is less pronounced in the ornithopod trackway, indicating that variation patterns can differ in separate trackways. In all trackways, hypices vary independently from each other, rendering their relative position a questionable feature for ichnotaxonomic purposes. Most criteria commonly employed to differentiate between left and right footprints assigned to theropods are found to be reasonably reliable. The described ornithopod footprints are asymmetrical, again allowing for a left-right differentiation. Strikingly, 12 out of 19 measured footprints of the T2 trackway are stepped over the trackway midline, rendering the trackway pattern a misleading left-right criterion for this trackway. Traditional measurements were unable to differentiate between the theropod and the ornithopod trackways. Geometric morphometric analysis reveals potential for improvement of existing discriminant methods.


Nova Hedwigia ◽  
2019 ◽  
Vol 109 (3) ◽  
pp. 291-301 ◽  
Author(s):  
Martha Isabel Vilchis ◽  
Jiri Neustupa ◽  
Kurt Dreckmann ◽  
Alejandra Quintanar ◽  
Abel Sentíes

The results of the discrimination by geometric morphometry of the species within the Crassiphycus corneus/C. usneoides complex is presented, from the shape of its cortical, subcortical and medullary cells in the apical, medium and basal portions of thallus. Principal component analysis, based on the elliptic Fourier descriptors of cellular outline shapes and NP-MANOVA analysis, show that only the cortical cells in the medium portion were significantly wider in C. corneus than in C. usneoides. The isoperimetric quotients (Q) indicated that these cells were significantly more circular in C. corneus than in C. usneoides. We conclude that the outline analyses efficiently recovered phenotypic differences between the species defined by molecular systematics and considered to be cryptic, so far.


2007 ◽  
Vol 64 (8) ◽  
pp. 1091-1100 ◽  
Author(s):  
Ana L Ibañez ◽  
Ian G Cowx ◽  
Paul O'Higgins

Geometric morphometric methods (GMMs) were used to determine if scale morphology can discriminate between genera, species, geographic variants, and stocks of mullet (Mugilidae). GMMs were used because they allow standard multivariate analyses while preserving information about scale shape, which is important in making biological interpretations of results. The method was tested on ctenoid scales from mullets collected from different areas of the Gulf of Mexico and Aegean Sea. Scales were submitted to generalised procrustes analysis, followed by principal components analysis of resulting shape coordinates. Principal component scores were submitted to cross-validated discriminant analysis to determine the efficacy of scale landmarks in discriminating by taxon and population. Fish scale form was least effective in discriminating populations from nearby areas, better when populations are more geographically dispersed, and best between species and genera. Scale form variations reflected previous genetic studies that differentiated congeneric Mugil cephalus and Mugil curema, which are distinct from other Mugilidae. The method is nondestructive, quick, and less costly than genetic analysis, thus allowing many individuals to be screened.


2020 ◽  
Vol 8 (1) ◽  
pp. 2 ◽  
Author(s):  
Denise K. Liberton ◽  
Payal Verma ◽  
Konstantinia Almpani ◽  
Peter W. Fung ◽  
Rashmi Mishra ◽  
...  

Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore the contribution of underlying dentofacial deformities (also known as skeletal malocclusions) in the craniofacial morphology of non-syndromic cleft lip and palate patients (nsCLP). For that purpose, geometric morphometric analysis was performed using full skull cone beam computed tomography (CBCT) images of patients with nsCLP (n = 30), normocephalic controls (n = 60), as well as to sex- and ethnicity- matched patients with an equivalent dentofacial deformity (n = 30). Our outcome measures were shape differences among the groups quantified via principal component analysis and associated principal component loadings, as well as mean shape differences quantified via a Procrustes distance among groups. According to our results, despite the shape differences among all three groups, the nsCLP group shares many morphological similarities in the maxilla and mandible with the dentofacial deformity group. Therefore, the dentoskeletal phenotype in nsCLP could be the result of the cleft and the coexisting dentofacial deformity and not simply the impact of the cleft.


2013 ◽  
Vol 296 (4) ◽  
pp. 568-579 ◽  
Author(s):  
Dimitri Neaux ◽  
Franck Guy ◽  
Emmanuel Gilissen ◽  
Walter Coudyzer ◽  
Stéphane Ducrocq

PeerJ ◽  
2016 ◽  
Vol 4 ◽  
pp. e2059 ◽  
Author(s):  
Jens N. Lallensack ◽  
Anneke H. van Heteren ◽  
Oliver Wings

A profound understanding of the influence of trackmaker anatomy, foot movements and substrate properties is crucial for any interpretation of fossil tracks. In this case study we analyze variability of footprint shape within one large theropod (T3), one medium-sized theropod (T2) and one ornithopod (I1) trackway from the Lower Cretaceous of Münchehagen (Lower Saxony, Germany) in order to determine the informativeness of individual features and measurements for ichnotaxonomy, trackmaker identification, and the discrimination between left and right footprints. Landmark analysis is employed based on interpretative outline drawings derived from photogrammetric data, allowing for the location of variability within the footprint and the assessment of covariation of separate footprint parts. Objective methods to define the margins of a footprint are tested and shown to be sufficiently accurate to reproduce the most important results. The lateral hypex and the heel are the most variable regions in the two theropod trackways. As indicated by principal component analysis, a posterior shift of the lateral hypex is correlated with an anterior shift of the margin of the heel. This pattern is less pronounced in the ornithopod trackway, indicating that variation patterns can differ in separate trackways. In all trackways, hypices vary independently from each other, suggesting that their relative position a questionable feature for ichnotaxonomic purposes. Most criteria commonly employed to differentiate between left and right footprints assigned to theropods are found to be reasonably reliable. The described ornithopod footprints are asymmetrical, again allowing for a left–right differentiation. Strikingly, 12 out of 19 measured footprints of the T2 trackway are stepped over the trackway midline, rendering the trackway pattern a misleading left–right criterion for this trackway. Traditional measurements were unable to differentiate between the theropod and the ornithopod trackways. Geometric morphometric analysis reveals potential for improvement of existing discriminant methods.


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