scholarly journals Facial anthropometry in an adult male with Sotos syndrome

RSBO ◽  
2019 ◽  
Vol 16 (1) ◽  
pp. 16-21
Author(s):  
Eliza Cristiane de Carvalho ◽  
Amanda Albino Bisson ◽  
Lucas Alvarenga Hespanhol ◽  
Nicoli Maria Pereira ◽  
Andrea Paula Fregoneze ◽  
...  

Sotos Syndrome is a dominant autossomic disease caused by a mutation in NSD1 gene localized in chromosome 5. The craniofacial phenotype of Sotos Syndrome is quite distinctive, especially in the young child, and includes macrocephaly, widelyspaced eyes, prominent chin and mandible, high and curved forehead, palpebral slits oblique and downward, long and narrow face. This phenotype plays an important role in the identification of this syndrome. Objective: The aim of this study was to analyze the craniofacial anthropometric landmarks of a young adult male with medical diagnosis of Sotos Syndrome. Material and methods: Using noninvasive method of craniofacial anthropometry, twenty five anthropometric measurements were taken of the individual and compared with the facial pattern of non-syndromic individuals, matched in gender and age. The findings were standards and converted to Z-scores. Results: the data analysis showed that the majority of variables were in supernormal range (greater than +2 standard deviation (SD). None none of them was in the subnormal range (less than –2SD). Conclusion: Anthropometric analysis of Sotos Syndrome demonstrated the usefulness of craniofacial analysis in defining abnormal craniofacial dimensions.

RSBO ◽  
2019 ◽  
Vol 16 (1) ◽  
pp. 16
Author(s):  
Eliza Cristiane de Carvalho ◽  
Amanda Albino Bisson ◽  
Lucas Alvarenga Hespanhol ◽  
Nicoli Maria Pereira ◽  
Andrea Paula Fregoneze ◽  
...  

Introduction: Sotos Syndrome is a dominant autossomic disease caused by a mutation in NSD1 gene localized in chromosome 5. The craniofacial phenotype of Sotos Syndrome is quite distinctive, especially in the young child, and includes macrocephaly, widelyspaced eyes, prominent chin and mandible, high and curved forehead, palpebral slits oblique and downward, long and narrowface. This phenotype plays an important role in the identification of this syndrome. Objective: The aim of this study was to analyze the craniofacial anthropometric landmarks of a young adult male with medical diagnosis of Sotos Syndrome. Material and methods: Using noninvasive method of craniofacial anthropometry, twenty five anthropometric measurements were taken of the individual and compared with the facial pattern of non-syndromic individuals,matched in gender and age. The findings were standards and converted to Z-scores. Results: the data analysis showed that the majority of variables were in supernormal range (greater than +2 standard deviation (SD). None none of them was in the subnormal range (less than –2SD). Conclusion: Anthropometric analysis of Sotos Syndrome demonstrated the usefulness of craniofacial analysisin defining abnormal craniofacial dimensions.


2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 826-826
Author(s):  
Roberta Maierhofer

Abstract This contribution discusses empirical applications of the approach of ‘anocriticism’ in interdisciplinary gerontological research. Despite the connection in terms of epistemology and ontology, the intersection of gender and age has been mostly ignored, privileging works focusing either on age or gender (Calasanti & Slevin 2001:27; Denninger & Schütze 2017:7). Age/ing Studies, however, would not have been established as a field without the theoretical and methodological approaches of feminist theory (Maierhofer (2019:2). Anocriticism was originally developed in order to investigate cultural representations of age/ing (Maierhofer 2003, 2004b, 2004a, 2007, 2012), but has recently been taken up in social sciences (Ratzenböck 2016a, 2016b, 2017a, 2017b; Gales and Loos 2020, forthcoming) in order to draw attention to four dimensions: (a) age and aging’s collective cultural construction and relation to gender, (b) the individual dimension of aging, (c) people’s interpretative power and narrative performance, and (d) age/ing’s potential for resistance and change.


2017 ◽  
Vol 79 (02) ◽  
pp. 200-204 ◽  
Author(s):  
Iuliia Zhuravlova ◽  
Maryna Kornieieva ◽  
Erik Rodrigues

Objectives The defining of the normal parameters of spacious relations and symmetry of the ventricular system of the brain depending on the gender and age is currently one of the topical research problems of clinical anatomy. The present research aims to identify the correlation between the morphometric parameters of the fourth ventricle of the brain and the shape of the skull in middle aged people. Design This is a prospective cohort study. Setting This study was set at the Trinity School of Medicine. Participants A total of 118 normal computed tomography scans of the head of people aged from 21 to 86 years (mean age—48.6 years ± 17.57) were selected for the study. Main Outcome Measures The anteroposterior, transverse diameters, and height of the fourth ventricle were measured and compared in dolichocranial, mesocranial, and brachycranial individuals. Results The study has shown the presence of a statistically significant difference between morphometric parameters of the fourth ventricle of the brain in dolichocranial, mesocranial, and brachycranial individuals. Conclusion The morphometric parameters of the fourth ventricle of the brain, such as height, anteroposterior, and transverse diameters, depend on the individual anatomic variability of the skull shape and gender.


2020 ◽  
Vol 6 (24) ◽  
pp. eaba8792 ◽  
Author(s):  
Rui Zhang ◽  
Wei Xiao ◽  
Yudong Ding ◽  
Yulong Feng ◽  
Xiang Peng ◽  
...  

Understanding the relationship between brain activity and specific mental function is important for medical diagnosis of brain symptoms, such as epilepsy. Magnetoencephalography (MEG), which uses an array of high-sensitivity magnetometers to record magnetic field signals generated from neural currents occurring naturally in the brain, is a noninvasive method for locating the brain activities. The MEG is normally performed in a magnetically shielded room. Here, we introduce an unshielded MEG system based on optically pumped atomic magnetometers. We build an atomic magnetic gradiometer, together with feedback methods, to reduce the environment magnetic field noise. We successfully observe the alpha rhythm signals related to closed eyes and clear auditory evoked field signals in unshielded Earth’s field. Combined with improvements in the miniaturization of the atomic magnetometer, our method is promising to realize a practical wearable and movable unshielded MEG system and bring new insights into medical diagnosis of brain symptoms.


Biostatistics ◽  
2017 ◽  
Vol 20 (1) ◽  
pp. 48-64
Author(s):  
Guillaume Saulière ◽  
Jérôme Dedecker ◽  
Laurie-Anne Marquet ◽  
Pierre Rochcongar ◽  
Jean-Francois Toussaint ◽  
...  

Summary The clinical and biological follow-up of individuals, such as the biological passport for athletes, is typically based on the individual and longitudinal monitoring of hematological or urine markers. These follow-ups aim to identify abnormal behavior by comparing the individual’s biological samples to an established baseline. These comparisons may be done via different ways, but each of them requires an appropriate extra population to compute the significance levels, which is a non-trivial issue. Moreover, it is not necessarily relevant to compare the measures of a biomarker of a professional athlete to that of a reference population (even restricted to other athletes), and a reasonable alternative is to detect the abnormal values by considering only the other measurements of the same athlete. Here we propose a simple adaptive statistic based on maxima of Z-scores that does not rely on the use of an extra population. We show that, in the Gaussian framework, it is a practical and relevant method for detecting abnormal values in a series of observations from the same individual. The distribution of this statistic does not depend on the individual parameters under the null hypothesis, and its quantiles can be computed using Monte Carlo simulations. The proposed method is tested on the 3-year follow-up of ferritin, serum iron, erythrocytes, hemoglobin, and hematocrit markers in 2577 elite male soccer players. For instance, if we consider the abnormal values for the hematocrit at a 5% level, we found that 5.57% of the selected cohort had at least one abnormal value (which is not significantly different from the expected false-discovery rate). The approach is a starting point for more elaborate models that would produce a refined individual baseline. The method can be extended to the Gaussian linear model, in order to include additional variables such as the age or exposure to altitude. The method could also be applied to other domains, such as the clinical patient follow-up in monitoring abnormal values of biological markers.


Author(s):  
Jongho Heo ◽  
Aditi Krishna ◽  
Jessica M. Perkins ◽  
Hwa-young Lee ◽  
Jong-koo Lee ◽  
...  

Inadequate child physical growth and cognitive development share common individual-level risk factors. Less understood is how outcomes co-cluster at the community level and to what extent certain community-level characteristics influence the clustering. This study aims to quantify the extent to which child growth and development co-occur across communities, and to identify community-level characteristics associated with the clustering of the two development dimensions. We used longitudinal data from 1824 children (aged 5 years) across 98 communities in Andhra Pradesh, India in round 2 (2006) of the Young Lives study, who were followed up 3 years later in round 3 (2009). A multivariate, multilevel statistical model was estimated wherein the responses were nested within individuals, and communities. We used z-scores of height-for-age, weight-for-age, Peabody Picture Vocabulary Test, and a mathematics test in 2009 as outcome variables. At the community level, we included compositional variables representing community characteristics while controlling for child socio-demographic characteristics at the individual level. At the community level, children’s physical growth and cognitive development were strongly correlated (coefficient: 0.55–0.76) and, even after controlling for individual-level covariables, a more pronounced correlation was shown at the community level than individual level correlation. Greater local healthcare resources were associated with better physical growth. More local programs run by government and NGOs/charities were associated with higher child language skills. Local social problems were inversely associated with math scores. Our study showed that physical growth and cognitive development tended to be clustered and co-occurred within communities as well as individual children.


2020 ◽  
Vol 175 ◽  
pp. 03016
Author(s):  
Nikolay Fenchenko ◽  
Nazira Hairullina ◽  
Albina Aminova ◽  
Munir Sabitov ◽  
Fanus Shagaliev

The article gives a comparative aspect of the organism development periodization, depending on the gender and age of the fetus. It was established that in the individual development of animals, there is a specific biological regularity of periodicity. It is indicated by the unequal growth of individual organs and the organism as a whole at different stages of ontogenesis, age-related features in the growth of individual parts and proportions of the body, as well as changes in the requirements of a growing organism to living conditions. At different stages of animal embryogenesis, there is a rather short period of a sharp increase in metabolism, as well as the intensity and usefulness of self-renewal, which to some extent, is an indicator of the growth rate of the fetus depending on gender. Pituitary and serum gonadotropins were used to induce ovulation of cows. As a result, in the group where pituitary gonadotropin was used, 87.5% of cows with pregnancy of 91.7% showed desire, 75% of serum gonadotropin with 87.5% of pregnancy. An analysis of the obtained data shows that in the second stage of embryonic development, the intensity of the formation of internal organs slows down, while the intensity of increasing the live weight of the fetus increases, regardless of groups.


2018 ◽  
Vol 574 (9) ◽  
pp. 30-44
Author(s):  
Łukasz Wirkus ◽  
Anna Babicka-Wirkus

The modern family undergoes considerable social and cultural transformations, which results in an accumulation of problems in its internal functioning, and is relevant for the individual and social development of its members. The article describes the issue of fulfi lling the socialization and educational function as well as emotional and expressive function in complete and broken families, and their signifi cance for choosing the style of coping with diffi cult situations by young adults. The study included 233 people in the 16–24 age group. Based on the analyzes carried out, it was found that people growing up in complete families use the style focused on task and emotions more frequently, whereas respondents from broken families prefer the style focused on emotions and engaging in substitutive activities. There are differences between gender and age of people from complete and broken families, and the style of coping with problems they choose. The results of the research discussed in the article may be useful in educational and preventive practice.


1965 ◽  
Vol 21 (2) ◽  
pp. 519-529
Author(s):  
Victor E. McGee

19 adult male voices were analyzed acoustically over two vowel sounds—/ee/ as in “heed” and /aw/ as in “hawed.” It was found that the individual differences observed on the utterances of /ee/ were preserved very closely (invariant) on the utterances of /aw/. Frequencies between 1000 cps and 2300 cps appeared not to play any part in producing this invariance.


1966 ◽  
Vol 8 (1) ◽  
pp. 155-156 ◽  
Author(s):  
Martyn H. Butterworth

The maintenance requirement for digestible organic matter of adult sheep has been derived by Wood and Capstick (1926) and more recently by Lang-lands, Corbett, McDonald and Pullar (1963) by means of regression analysis of data for feed intake, live-weight and live-weight gain.As data from digestibility trials carried out both in Trinidad and Venezuela were available, similar equations were derived for adult male sheep under tropical conditions. Groups of six adult male sheep were housed individually and total collections of faeces and urine were made for periods of 10 days after preliminary periods of 7 or 10 days. The quantity of forage offered was generally that which the individual sheep would eat without leaving a large residue. The results obtained in these trials and a more detailed description of the methods used have been described elsewhere (Butterworth, 1963; 1965). In all, 178 sets of data were used. Each set for an individual animal consisted of daily intake of digestible organic matter (D), the mean (W) of initial and final body weights, and daily change in weight (G) all in lb. Values of D and G were means obtained from the results for the 10-dayperiod. The value of G was subject to high error in determination as periods were short and measurement of weight change in ruminant animals over short periods is most unreliable (see for example, Lush, Christensen, Wilson and Black, 1928; Whiteman, Chambers, Loggins, Pope and Stephens, 1954). Mean values and ranges of the values were as follows: D=0·96 lb. (0·46–1·87 lb.), W=84·2 lb. (56·0–149·0 lb.) and G=0·02 lb. (-0·5-+0·5 lb.). The digestibility coefficients for the dry matter of the various forages used ranged from 47·3 to 68·0%.


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