Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype

2017 ◽  
Vol 92 (2) ◽  
pp. 204-207 ◽  
Author(s):  
P. Klemetti ◽  
H. Valta ◽  
S. Kostjukovits ◽  
M. Taskinen ◽  
S. Toiviainen-Salo ◽  
...  
Author(s):  
I. G. Shubin ◽  
A. A. Kurkin

During manufacturing nuts of increased height, a problem of obtaining correct cylindrical form of the hole for thread and overall geometrical parameters arises. To solve the problem it is necessary to know regularity of the blank forming process. Results of the study of a technological process of high hexahedral nuts forming presented. The nuts were M18 of 22 mm height, M16 of 19 mm height and M12 of normal height 10 mm according to GOST 5915–70, accuracy class B, steel grade 10 according to GOST 10702–78. The volumetric stamping was accomplished at the five-position automatic presses of АА1822 type. It was determined, that unevenness of the metal flow in the process of plastic deformation of blanks of increased height nuts was caused by different stress conditions by their sections. To simulate the mode of deformation, the program complex QForm-3D was chosen. The complex ensured to forecast with necessary accuracy the metal flow in a blank, as well as to define the deformation force and arising stress in the working instrument. The simulation showed the presence of regularity between preliminary formed buffle and deviation of dimensions and form of a blank wall after its finishing piercing, which can be expressed by a nonlinear dependence. The limit values of the relative height of the buffle С/D = 0.56–0.588 defined, exceeding which will result in rejection of the finished product. Accounting the limit values of the relative height of the buffle will enable to correct a mode of technological operations and technological instruments at stamping of high hexahedral nuts.


Author(s):  
N.P. Veropotvelyan, A.A. Bondarenko

Objective. To evaluate the pre- and postnatal outcomes of euploid fetuses with aplasia/hypoplasia of the nasal bones (NB). Methods. We have made the catamnestic monitoring of children with a normal karyotype, who had been prenatally detected NB aplasia or hypoplasia (less than 5 perentile) at 11–24 weeks of gestation at ultrasound screening in the period between 2006–2015 years. Our study included a selection of 242 fetuses with NB aplasia or hypoplasia, in 128 (52.8 %) of them the NB was not visualized or appeared as an echogenic dot only. Results. Among all 63 fetuses with NB aplasia (absence or looks as an echogenic dot) in the 1st trimester in 24 (38 %) cases chromosomal abnormalities (CA) were found (including T21 — 15 (62.5 %) cases). Other 39 (61.9 %) fetuses had a normal karyotype. Among 65 fetuses with NB aplasia, examined in the 2nd trimester of gestation 12 (18.4 %) cases of CA were detected (one fetus with T21 had the only one ultrasound marker – isolated NB aplasia), 53 (81.5 %) fetuses had a normal karyotype. 62 mothers of the euploid fetuses with NB aplasia had been surveyed. We have received and analyzed 31 (50 %) responses. In 16 cases of euploid fetuses with NB, aplasia pregnancy outcome was adverse or relatively unfavorable, only 5 (31.2 %) fetuses of them had isolated NB aplasia. In other cases healthy full-term infants were born, who showed normal height and weight indexes, physical and psychomotor development observed in age from 0 to 10. Conclusion. In 51.6 % fetuses and children prenatally had aplasia of the nasal bone was marked by unfavorable pre- or postnatal outcome, according to the survey of their mothers.


2018 ◽  
Vol 939 (9) ◽  
pp. 2-9
Author(s):  
V.V. Popadyev

The author analyzes the arguments in the report by Robert Kingdon, Petr Vanicek and Marcelo Santos “The shape of the quasigeoid” (IX Hotin-Marussi Symposium on Theoretical Geodesy, Italy, Rome, June 18 June 22, 2018), which presents the criticisms for the basic concepts of Molodensky’s theory, the normal height and height anomaly of the point on the earth’s surface, plotted on the reference ellipsoid surface and forming the surface of a quasigeoid. The main advantages of the system of normal heights, closely related to the theory of determining the external gravitational field and the Earth’s surface, are presented. Despite the fact that the main advantage of Molodensky’s theory is the rigorous determining the anomalous potential on the Earth’s surface, the use of the system of normal heights can be shown and proved separately. To do this, a simple example is given, where the change of marks along the floor of a strictly horizontal tunnel in the mountain massif is a criterion for the convenience of the system. In this example, the orthometric heights show a change of 3 cm per 1.5 km, which will require corrections to the measured elevations due the transition to a system of orthometric heights. The knowledge of the inner structure of the rock mass is also necessary. It should be noted that the normal heights are constant along the tunnel and behave as dynamic ones and there is no need to introduce corrections. Neither the ellipsoid nor the quasi-geoid is a reference for normal heights, because so far the heights are referenced to initial tide gauge. The points of the earth’s surface are assigned a height value; this is similar to the ideas of prof. L. V. Ogorodova about the excessive emphasis on the concept of quasigeoid. A more general term is the height anomaly that exists both for points on the Earth’s surface and at a distance from it and decreases together with an attenuation of the anomalous field.


Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1802
Author(s):  
Fitrah Ernawati ◽  
Ahmad Syauqy ◽  
Aya Yuriestia Arifin ◽  
Moesijanti Y. E. Soekatri ◽  
Sandjaja Sandjaja

Micronutrient deficiencies and stunting are known as a significant problem in most developing countries, including Indonesia. The objective of this study was to analyze the association between micronutrient deficiencies and stunting with socioeconomic status (SES) among Indonesian children aged 6–59 months. This cross-sectional study was part of the South East Asian Nutrition Surveys (SEANUTS). A total of 1008 Indonesian children were included in the study. Anemia, iron deficiency, vitamin A deficiency, vitamin D deficiency, and stunting were identified in this study. Structured questionnaires were used to measure SES. Differences between micronutrient parameters and anthropometric indicators with the SES groups were tested using one-way ANOVA with post-hoc test after adjusted for age, area resident (rural and urban), and sex. The highest prevalence of anemia, stunting, and severe stunting were found to be most significant in the lowest SES group at 45.6%, 29.3%, and 54.5%, respectively. Children from the lowest SES group had significantly lower means of Hb, ferritin, retinol, and HAZ. Severely stunted children had a significantly lower mean of Hb concentration compared to stunted and normal height children. Micronutrient deficiencies, except vitamin D, and stunting, were associated with low SES among Indonesian children aged 6–59 months.


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