scholarly journals Facial anthropometry in an adult male with Sotos syndrome

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.

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.


PEDIATRICS ◽  
1994 ◽  
Vol 94 (4) ◽  
pp. 478-481
Author(s):  
Mouin G. Seikaly ◽  
Richard H. Browne ◽  
Michel Baum

Background. X-linked hypophosphatemia is the most common inherited cause of rickets. Current therapy for this disorder includes vitamin D and phosphate supplementation; however, phosphate therapy has been associated with nephrocalcinosis. The purpose of this study is to evaluate the effect of oral phosphate therapy on growth in patients with X-linked hypophosphatemia treated with either calcitriol or dihydrotachysterol (vitamin D). Methods. We retrospectively evaluated the prepubertal growth of 36 children with X-linked hypophosphatemia. The height standard deviation score (Z-score) of patients initially treated with vitamin D alone and the Z-scores of patients treated with vitamin D and phosphate therapy were compared. In addition, the growth of patients treated with vitamin D was compared with that of patients treated with vitamin D and phosphate from the outset of therapy. Results. Patients treated with vitamin D alone for 5.36 ± 2.18 years had an improvement in Z-score from -3.18 ± 1.10 to -2.49 ± 0.66 SDS, ,P < .05. Adding phosphate therapy for patients initially treated with vitamin D alone for 4.83 ± 2.99 years did not further improve Z-score (-2.49 ±0.66 vs -2.35 ± 0.83). Initial therapy with vitamin D and phosphate for 4.33 ± 2.19 years also improved Z-score, (-2.84 ± 1.02 vs -1.98 ± 0.82, P < .05). The change in Z-score was similar to the group treated with vitamin D alone compared with the group treated initially with vitamin D and phosphate (0.65 ± 0.54 vs 0.85 ± 0.65, respectively). Conclusion. These data demonstrate that both vitamin D alone and in combination with phosphate improved linear growth. Adding oral phosphate for children initially treated with vitamin D alone did not improve Z-score. Initial therapy with vitamin D and vitamin D plus phosphate produced similar changes in linear growth.


2018 ◽  
Vol 14 (9) ◽  
pp. 111
Author(s):  
Wat Ploysri ◽  
Krairop Charoensopa ◽  
Suppawan Pankohlerng

The aims of the study were: (1) to investigate the needs toward product packaging of the farmer housewife group in Maha Sawat, Nakhon Pathom province, (2) to develop the product packaging design of the farmer housewife group in Maha Sawat, Nakhon Pathom province, and (3) to test the product-packaging market from consumers of the farmer housewife group in Maha Sawat, Nakhon Pathom province. The sample included (1) ten participants for analyzing needs toward the product packaging by employing the focus group discussion and (2) two-hundred consumers for testing product-packaging market by using a questionaire. The findings elucidated that (1) the farmer housewife group and consumers needed the product packaging to have a capacity to extend shelf life of the snack, to keep and reopen next time, as well as to protect the product while packing. Besides, the packaging should have the beautiful and attractive logo which can represent the group’s identity and label which can correctly inform the product description as well as should be compact and portable. (2) The packaging of Thai rice crackers (Kao Tung) made by the farmer housewife group in Maha Sawat had the high level of average assessed by the experts. (3) The market-test result on consumers’ satisfaction towards the farmer housewife group’s product packaging demonstrated the average with 4.38 and the standard deviation with 0.55. The market-test result on consumers’ satisfaction towards the product packaging based on gender and age showed that all aspects were insignificantly different.


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.


2002 ◽  
Vol 24 (4) ◽  
pp. 105-110 ◽  
Author(s):  
Jarbas J. R. Rohwedder ◽  
Celio Pasquini ◽  
Ivo M. Raimundo, Jr. ◽  
M. Conceiçao ◽  
B. S. M. Montenegro ◽  
...  

A versatile potentiometer that works with electrode arrays in flow injection and/or monosegmented flow systems is described. The potentiometer is controlled by a microcomputer that allows individual, sequential multiplexed or random accesses to eight electrodes while employing only one reference electrode. The instrument was demonstrated by monitoring an array of seven flow-through ion-selective electrodes for Ag+and for three electrodes for Cl-, Ca2+and K+. The figures of merit of the individual and multiplexed (summed) readings of the electrode array were compared. The absolute standard deviation of the measurements made by summing the potential of two or more electrodes was maintained constant, thus improving the precision of the measurements. This result shows that an attempt to combine the signals of the electrodes to produce a more intense signal in the Hadamard strategy is feasible and accompanied by a proportional improvement in the precision of individual measurements. The preliminary tests suggest that the system can allow for 270 determinations per hour, with a linear range from1.0×10−2to1.0×10−4mol l-1for the three di¡erent analytes. Detection limits were estimated as3.1×10−5,3.0×10−6and1.0×10−5mol l-1for Cl-, Ca2+and K+, respectively.


PEDIATRICS ◽  
1954 ◽  
Vol 13 (2) ◽  
pp. 165-173
Author(s):  
DONALD MAINLAND

An observer's variable error in skeletal age assessment of hand RGs (i.e., the irregular ion between independent readings of the same film) was studied on 1,124 readings of 326 films from 233 children aged 16 months to 17 years. seventy-nine of the RGs were full-size reproductions in Macyr's Nutrition and Chemical Growth in Childhood; the remainder were actual films of children in Halifax, Canada (healthy Orphanage residents and children examined in a nutrition survey). There was no significant difference in variable error associated with the atlas (Todd, Greulich-Pyle), age of child, sex, differences between skeletal and chronologic age, differences between children, or differences between RGs of the same child, except for a tendency in the Macy Series for the poorest reproductions to have a larger variable error than the best reproductions. ions. In most readings the individual indicators were assessed separately and the results averaged, but a quicker method (over-all appraisal) did not produce a significantly different variable error. The quick method may be useful in large surveys, although it appears too coarse for the study of individual children. The observer's variable error was expressed by standard deviations of approximately three months (Macy Series—both atlases; Nutritirn Series—Greulich-Pyle atlas) and four months (Orphanage Series—both atlases). With a standard deviation of three months an assessor must affix an error of ± 8.3 months to his estimate of a child's progress in skeletal age, in order to obtain confidence limits with 95% probability. If his standard deviation is four months he must allow ± 11.1 months. For evaluation of the assessment method, many observers' estimates of variable error are needed, and an appeal for data is issued. After more than 1200 readings had been made the observer's practice lapsed for about a year. Reassessment of a random sample of RGs then showed, besides variable error, a mean systematic difference of approximately three months from the previous readings of the same films with the same atlas. To avoid this risk, any two films that are to be assessed for skeletal progress should be read within a few weeks of each other, and special precautions are therefore necessary to secure independence of the two readings.


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.


2018 ◽  
Vol 26 (2) ◽  
pp. 130-136
Author(s):  
Tatiana Lorincová

The presented paper deals with the analysis of selected stress management strategies considering to gender and position in organization in which individual employees work. The aim of the paper is to compare the ways of managing and processing the stressful situations, as well as their variability with regard to the group of respondents, their inclusion in the organization (manager or executive employee) and the size of organization (small and medium organization). The research was conducted by using two methodologies, namely Brief COPE from Carver (1997) and SVF 78 by Janke and Erdmann (2003). The research sample consisted of 130 respondents aged 19 to 63 (mean age 40.38 with a standard deviation of 6.73), namely 53.8% of males and 47.2% of women. The research sample consisted of executive employees (49.2%) and managers (50.8%) working in a small and medium-sized organization. The research results were analyzed by t-test for two independent samples, namely the individual stress management strategies were compared. We found statistically significant differences in the level of control of the situation, self-blaming, POZ 1 and NEG among executive employees and managers. At the level of perseverance, self-blaming, religiosity and spirituality, and NEG we found statistically significant gender differences. Comparison of employees working in a small and medium-sized organization has demonstrated the existence of statistically significant differences in levels of underestimation, negation, ventilation and self-blaming. The most common strategy of stress management was the strategy of self-blaming, given the analyzed socio-demographic characteristics of the respondents.


2018 ◽  
Vol 11 (7) ◽  
pp. 4059-4072 ◽  
Author(s):  
Sergio Fabián León-Luis ◽  
Alberto Redondas ◽  
Virgilio Carreño ◽  
Javier López-Solano ◽  
Alberto Berjón ◽  
...  

Abstract. Total ozone column measurements can be made using Brewer spectrophotometers, which are calibrated periodically in intercomparison campaigns with respect to a reference instrument. In 2003, the Regional Brewer Calibration Centre for Europe (RBCC-E) was established at the Izaña Atmospheric Research Center (Canary Islands, Spain), and since 2011 the RBCC-E has transferred its calibration based on the Langley method using travelling standard(s) that are wholly and independently calibrated at Izaña. This work is focused on reporting the consistency of the measurements of the RBCC-E triad (Brewer instruments #157, #183 and #185) made at the Izaña Atmospheric Observatory during the period 2005–2016. In order to study the long-term precision of the RBCC-E triad, it must be taken into account that each Brewer takes a large number of measurements every day and, hence, it becomes necessary to calculate a representative value of all of them. This value was calculated from two different methods previously used to study the long-term behaviour of the world reference triad (Toronto triad) and Arosa triad. Applying their procedures to the data from the RBCC-E triad allows the comparison of the three instruments. In daily averages, applying the procedure used for the world reference triad, the RBCC-E triad presents a relative standard deviation equal to σ = 0.41 %, which is calculated as the mean of the individual values for each Brewer (σ157 = 0.362 %, σ183 = 0.453 % and σ185 = 0.428 %). Alternatively, using the procedure used to analyse the Arosa triad, the RBCC-E presents a relative standard deviation of about σ = 0.5 %. In monthly averages, the method used for the data from the world reference triad gives a relative standard deviation mean equal to σ = 0.3 % (σ157 = 0.33 %, σ183 = 0.34 % and σ185 = 0.23 %). However, the procedure of the Arosa triad gives monthly values of σ = 0.5 %. In this work, two ozone data sets are analysed: the first includes all the ozone measurements available, while the second only includes the simultaneous measurements of all three instruments. Furthermore, this paper also describes the Langley method used to determine the extraterrestrial constant (ETC) for the RBCC-E triad, the necessary first step toward accurate ozone calculation. Finally, the short-term or intraday consistency is also studied to identify the effect of the solar zenith angle on the precision of the RBCC-E triad.


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