Dermatoglyphics as a possible morphological biomarker in myopia: analysis of finger ridge counts and fluctuating asymmetry

Background: The aim of this study is to provide the first analysis of finger ridge counts and fluctuating asymmetry in myopia, in order to evaluate dermatoglyphic role as a morphological biomarker. Materials and methods: Study sample consisted of 102 participants recruited from freshman students’ population of the University of Priština-Kosovska Mitro- vica. Prints were taken by standard ink and paper method. Differences in mean ridge counts between examined groups were analysed by ANOVA analysis of variance. Fluctuating asymmetry assessment was performed by using correlation method (p < 0.05).  Results: Analysis has identified myopic males as the group with the most pro- minent differences of examined dermatoglyphic parameters. Myopic males, compared to controls, have significantly higher ridge counts for left and right ring and little finger, as well as total ridge count. Also, this group has recorded significant difference in fluctuating asymmetry correlation score for middle finger, and borderline significance for thumb and ring finger.  Conclusions: Overall findings of this study have indicated that dermatoglyphics might serve as a morphological biomarker, especially in myopic males, selecting them as the group with dermatoglyphic differences that might be suggestive of higher developmental instability. Although promising, the present results should be considered as preliminary until future investigations replicate them in a larger sample.

Exploring directional and fluctuating asymmetry in the human palate during growth

open24siObjectives: Palate morphology is constantly changing throughout an individual's lifespan, yet its asymmetry during growth is still little understood. In this research, we focus on the study of palate morphology by using 3D geometric morphometric approaches to observe changes at different stages of life, and to quantify the impact of directional and fluctuating asymmetry on different areas at different growth stages. Materials and Methods: The sample consists of 183 individuals (1–72 years) from two identified human skeletal collections of 19th and early 20th Century Italian contexts. A 3D-template of 41 (semi)landmarks was applied on digital palate models to observe morphological variation during growth. Results: Asymmetrical components of the morphological structure appears multidirectional on the entire palate surface in individuals <2 years old and become oriented (opposite bilateral direction) between 2 and 6 years of age. Specifically, directional asymmetry differentially impacts palate morphology at different stages of growth. Both the anterior and posterior palate are affected by mild alterations in the first year of life, while between 2 and 6 years asymmetry is segregated in the anterior area, and moderate asymmetry affects the entire palatal surface up to 12 years of age. Our results show that stability of the masticatory system seems to be reached around 13–35 years first by females and then males. From 36 years on both sexes show similar asymmetry on the anterior area. Regarding fluctuating asymmetry, inter-individual variability is mostly visible up to 12 years of age, after which only directional trends can be clearly observed at a group level. Discussion: Morphological structure appears instable during the first year of life and acquires an opposite asymmetric bilateral direction between 2 and 6 years of age. This condition has been also documented in adults; when paired with vertical alteration, anterior/posterior asymmetry seems to characterize palate morphology, which is probably due to mechanical factors during the lifespan. Fluctuating asymmetry is predominant in the first period of life due to a plausible relationship with the strength of morphological instability of the masticatory system. Directional asymmetry, on the other hand, shows that the patterning of group-level morphological change might be explained as a functional response to differential inputs (physiological forces, nutritive and non-nutritive habits, para-masticatory activity as well as the development of speech) in different growth stages. This research has implications with respect to medical and evolutionary fields. In medicine, palate morphology should be considered when planning orthodontic and surgical procedures as it could affect the outcome. As far as an evolutionary perspective is concerned the dominance of directional asymmetries in the masticatory system could provide information on dietary and cultural habits as well as pathological conditions in our ancestors.embargoed_20220511Oxilia G.; Menghi Sartorio J.C.; Bortolini E.; Zampirolo G.; Papini A.; Boggioni M.; Martini S.; Marciani F.; Arrighi S.; Figus C.; Marciani G.; Romandini M.; Silvestrini S.; Pedrosi M.E.; Mori T.; Riga A.; Kullmer O.; Sarig R.; Fiorenza L.; Giganti M.; Sorrentino R.; Belcastro M.G.; Cecchi J.M.; Benazzi S.Oxilia G.; Menghi Sartorio J.C.; Bortolini E.; Zampirolo G.; Papini A.; Boggioni M.; Martini S.; Marciani F.; Arrighi S.; Figus C.; Marciani G.; Romandini M.; Silvestrini S.; Pedrosi M.E.; Mori T.; Riga A.; Kullmer O.; Sarig R.; Fiorenza L.; Giganti M.; Sorrentino R.; Belcastro M.G.; Cecchi J.M.; Benazzi S

Episodic vestibular symptoms in children with a congenital cytomegalovirus infection

Objective: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss in children. Although cCMV-induced vestibular loss is demonstrated in several studies, the occurrence of vertigo has been described in only two cases to date. The aim of this paper is to discuss the underlying pathophysiology of recurrent vestibular symptoms in children with cCMV, based on five cases investigated in our center and an extensive research of the literature. Study design: Retrospective case series. Setting: Tertiary referral center. Patients: This case series describes five pediatric cCMV-patients (three boys, two girls). Four of them were symptomatic at birth, one was asymptomatic. Three patients underwent cochlear implantation. The age of onset of the vestibular symptoms varied from 2;0 to 7;3 years of age. Intervention: None. Main outcome measures: Details regarding the patient history and results of cranial imaging, audiological, vestibular, and neurological assessments were collected retrospectively. Results: The selected cases suffered from recurrent vestibular symptoms. All patients had delayed onset, fluctuating, and/or progressive hearing loss. In all cases, the attacks were accompanied with nausea and vomiting and occurred without clear-cut trigger. Migraine and epilepsy often were proposed as first diagnosis, although they could not be confirmed eventually. Four out of five patients were diagnosed with a peripheral vestibular deficit. Conclusions: Diagnosis of vestibular symptoms in children with cCMV is complex, given the multiple morbidities than can occur. Peripheral vestibular causes should be considered in the diagnosis, as important vestibular deficits are demonstrated in this population

Characterisation of Longitudinal Brain Morphology, Neurometabolism and Prenatal to Neonatal Brain Growth in Patients with Congenital Heart Disease

Congenital heart disease (CHD) affect 8 in 1000 newborns (Liu et al. 2019). The consequences of CHD vary greatly, depending on the specific type of CHD. While advancements in surgical techniques and patient care have led to a high survival rate for severe types of CHD, patients are still at risk of impaired neurodevelopment (ND). Early ND impairment can manifest in various domains, including motor, cognitive or language development (Latal 2016). As a result, one area of CHD research is dedicated to studying the brain development of these patients. This thesis focuses on the longitudinal description of brain development during the late fetal and neonatal period. First, we explored whether deformation-based morphometry (DBM) could be a suitable tool to study CHD patients from fetal to neonatal time period by applying this method to a healthy control cohort. Next, we analysed longitudinally collected data from two studies, primarily focusing on quantifying brain development and searching for associations with ND outcomes in CHD patients. In the first study we explored how DBM could be applied to fetal and neonatal MRI data to observe asymmetry changes during this period. By using DBM, we were able to reveal temporal changes of asymmetry patterns. However, the results may greatly depend on the various combinations of analysis tools and their parameters used. In the second study, where we compared brain development in CHD patients to healthy controls, we therefore relied on volume and surface measurements to quantify growth. Here, we could show that the total brain volume growth trajectory for CHD patients was reduced compared to healthy controls. Finally, we investigated neurometabolite ratios in CHD patients and their association to ND outcome. While we found that a specific neurometabolite ratio (NAA/Cho; N-acetylaspartate to choline-containing compounds) was reduced in the CHD cohort compared to healthy controls, we could not find any association with ND outcome measured at one year of age. In conclusion, the work presented in this thesis uses various methods to study brain development in a longitudinal manner. The findings provide further evidence that brain 4 development in CHD patients is altered while its association with ND outcome requires further investigation

A Developmental Psychobiological Approach to Human Development

Individuals inherit not just genes from the parents but also an epigenetic pattern, an ecological (social, biological, and physical) niche, and perceptual and behavioral biases (e.g., culture), all of which can provide experiences necessary for the formation of nascent systems upon which subsequent learning and development depend. Some models of development are evaluated and the developmental psychobiology model is presented as the best way of elucidating how certain early experiences can shape nascent systems that will contribute to the development of a wide range of social, emotional, and cognitive abilities in humans. An example from handedness development is used to illustrate the model

Origins of the sex differences in handedness and mental rotation ability : genetic, environmental and hormonal effects

In humans, well-replicated and robust sex differences in cognitive functions exist for handedness and mental rotation ability. A common characteristic in human cognitive functions is the lateralization of language functions. Handedness is a common measure of laterality and is related to language lateralization. The prevalence of left-handedness is higher in males than in females, the male to female ratio being about 1.2. Among cognitive abilities, the largest sex difference is evident in the Vandenberg and Kuse Mental Rotation Test (MRT), which requires the ability to rotate objects in mental space. On average, males achieve scores one standard deviation higher than females in the MRT. The present thesis investigated the origins of the sex differences in laterality and spatial ability as represented by handedness and mental rotation ability, respectively. Two population-based Finnish twin cohorts were utilized in this study. Handedness was studied in 25 810 twins and 4068 singletons born before 1958 from the Older Finnish Twin Cohort, and in 4736 twins born in 1983-87 from the FinnTwin12. MRT was studied in a sub-sample of 804 young adult participants from the FinnTwin12 sample. The main findings of this study were: 1) the prevalence of left-handedness was higher among males than among females in both singletons and in twins; 2) males had significantly higher scores than females in MRT; 3) about one quarter of the variance in handedness and about half of the variance in MRT was explained by genetic effects, whereas the remainder of the variance in these traits was explained by environmental effects unique to each individual. The magnitude of the genetic effects was similar in both sexes; 4) left-handedness was significantly less common in female co-twins of a male than in female co-twins of a female, and female co-twins of a male scored significantly higher than did female co-twins of a female in the Mental Rotation Test. This dissertation discusses whether these differences between females from opposite- and same-sex twin pairs are due to the prenatal transfer of testosterone from the male fetus in females with male co-twins or whether they arise from postnatal socialization effects.Kognitiivisten toimintojen alueella kaksi selkeää sukupuolieroa ilmenevät kätisyydessä ja avaruudellisen hahmottamisen kyvyssä pyörittää (rotatoida) mielensisäisesti kappaleita. Vasenkätisyys on noin 1,2 kertaa yleisempää miehillä kuin naisilla. Miesten keskimääräinen tulos avaruudellista hahmottamista mittaavassa Mental Rotation Testissä (MRT) on noin yhden keskihajonnan parempi kuin naisilla. Tässä väitöskirjassa tutkittiin sukupuolierojen alkuperää lateraalisuudessa ja avaruudellisessa hahmottamisessa, joita tässä tutkimuksessa edustivat kätisyys ja MRT. Tutkimuksessa käytettiin kahta suomalaista väestöpohjaista kaksosaineistoa: kätisyyttä tutkittiin aineistolla, jossa oli mukana 25 810 ennen vuotta 1958 syntynyttä kaksosta ja 4068 ei-kaksosta sekä kaksosten kehitys ja terveys tutkimus aineistolla, jossa oli mukana 4736 vuosina 1983-87 syntynyttä kaksosta. Avaruudellista hahmottamista käsittäviin tutkimuksiin osallistui 804 nuorta aikuista kaksosten kehitys ja terveys tutkimuksesta. Tärkeimmät tulokset olivat: 1) vasenkätisyys oli miehillä yleisempää kuin naisilla, niin kaksosilla kuin ei-kaksosillakin; 2) mieskaksoset suoriutuivat naiskaksosia paremmin avaruudellista hahmottamista vaativassa tehtävässä; 3) sekä naisilla että miehillä noin neljännes kätisyydessä esiintyvästä vaihtelusta ja noin puolet avaruudellisen hahmottamisen kyvyssä esiintyvästä vaihtelusta selittyivät geneettisillä tekijöillä, yksilöille erilaisten ympäristötekijöiden selittäessä loput näissä ominaisuuksissa esiintyvästä vaihtelusta; 4) vasenkätisyys oli harvinaisempaa naisilla joilla on kaksosveli kuin naisilla joilla on kaksossisar ja lisäksi naiset joilla on kaksosveli suoriutuivat avaruudellista hahmottamista vaativassa tehtävässä merkitsevästi paremmin kuin naiset joilla on kaksossisar. Tämän tutkimuksen perusteella ei voida varmasti sanoa, että johtuvatko viimeksi mainitut erot siitä, että naiskaksoset joilla on veli saattavat altistua kohdussa kaksosveljen tuottamalle testosteronille vai siitä, että syntymän jälkeinen kasvuympäristö on erilainen naisilla joilla on kaksosveli kuin naisilla joilla on kaksossisar

Developmental regulation of skull morphology. I. Ontogenetic dynamics of variance

In the absence of processes regulating morphogenesis and growth, phenotypic variance of a population experiencing no selective mortality should increase throughout ontogeny. To determine whether it does, we measure variance of skull shape using geometric morphometrics and examine its ontogenetic dynamics in the precocial cotton rat ( Sigmodon fulviventer ) and the altricial house mouse ( Mus musculus domesticus ). In both species, variance of shape halves between the two youngest samples measured (between 1 and 10 days postnatal and 10 and 15 days postnatal, respectively) and thereafter is nearly constant. The reduction in variance did not appear to result from a general regulation of skull size or developmental timing, although skull size may also be regulated and developmental timing is an important component of the variation in skull shape of young house mice. The ontogenetic dynamics of variance suggest two possible scenarios. First, variation generated during fetal or early postnatal growth is not immediately compensated and therefore accumulates, whereas later in growth, variation is continually generated and rapidly compensated. Second, variation generated during fetal and early postnatal growth is rapidly compensated, after which no new variance is produced. Based on a general model for bone growth, we hypothesize that variance is generated when bone grows under the direction of disorganized muscular movements and decreases with increasing neuromuscular control. Additionally, increasing coherence of signals transmitted by the growing brain and sensory organs, which exert tensile forces on bone, may also canalize skull shape.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/72090/1/j.1525-142X.2004.04025.x.pd

Symmetry in Human Evolution, from Biology to Behaviours

Our knowledge of human evolution has made particular progress recently, due to the discovery of new fossils, the use of new methods and multidisciplinary approaches. Moreover, studies on the departure from symmetry, including variations in fluctuating or directional asymmetries, have contributed to the expansion of this knowledge. This Special Issue brings together articles that deal with symmetry and human evolution. The notion of symmetry is addressed, including whether to reconstruct deformed fossil specimens, study biological variations within hominins or compare them with extant primates, address the shape of the brain or seek possible relationships between biological and behavioural data