The structure of genetically determined types of short stature in Uzbekistan according to retrospective analysis

2016 ◽  
Author(s):  
Nilufar Ibragimova ◽  
Dilbar Dalimova ◽  
Malika Mirkhaidarova
2020 ◽  
Vol 50 (4) ◽  
pp. 109-123
Author(s):  
Iwona Wojda ◽  
Anna Mikler-Chwastek

The current work is an attempt to look at the problem of achondroplasia in a holistic and thus interdisciplinary way. Achondroplasia is a genetically determined disease caused by a mutation in the gene encoding the FGFR3 receptor. We have attempted to describe the biological causes of achondroplasia, addressing those issues in human biology that are necessary to understand the reasons for short stature. We also describe the chances and mechanisms of inheriting this disease. In addition, the description of the structure of a small child and his or her physical abilities which is included in the article will be helpful for the parents and in educational institutions. The children can function well in pre-school and school environments, as there are no indications for individual teaching. However, they may struggle with social and emotional difficulties, as short stature may cause problems with self-esteem, and may also be a barrier in building peer relationships. A holistic view of a child affected by achondroplasia is important to honestly support their development and education.


Author(s):  
K.C. Feng-Chen ◽  
F.B. Essien ◽  
K.J. Prestwidge ◽  
J.T. Cheng ◽  
C.L. Shen

The physiology of the fetal heart differs significantly from that of the mature post-natal organ: e.g., the metabolic supply for adult cardiac contraction relies mainly on fatty acids; whereas, the fetal heart uses carbohydrates as its primary energy source. Limited morphological descriptions of the developing myocardium have appeared. However, additional studies are required to elucidate the ultrastructural changes occuring in the perinatal period when enormous physiological adjustments are made. Although adult animals are most often used in toxocological and pathological analyses, it is also important to investigate fetal cardiac responsiveness to various agents. The vulnerability of the ultrastructure of the fetal mouse myocardium to genetic and environmental assault is the subject of this report. The genetically determined effect on the heart was observed in mouse embryos homozygous for the cab (cardiac abnormality) mutation discovered by Essien.


Author(s):  
Julie L. Wambaugh ◽  
Lydia Kallhoff ◽  
Christina Nessler

Purpose This study was designed to examine the association of dosage and effects of Sound Production Treatment (SPT) for acquired apraxia of speech. Method Treatment logs and probe data from 20 speakers with apraxia of speech and aphasia were submitted to a retrospective analysis. The number of treatment sessions and teaching episodes was examined relative to (a) change in articulation accuracy above baseline performance, (b) mastery of production, and (c) maintenance. The impact of practice schedule (SPT-Blocked vs. SPT-Random) was also examined. Results The average number of treatment sessions conducted prior to change was 5.4 for SPT-Blocked and 3.9 for SPT-Random. The mean number of teaching episodes preceding change was 334 for SPT-Blocked and 179 for SPT-Random. Mastery occurred within an average of 13.7 sessions (1,252 teaching episodes) and 12.4 sessions (1,082 teaching episodes) for SPT-Blocked and SPT-Random, respectively. Comparisons of dosage metric values across practice schedules did not reveal substantial differences. Significant negative correlations were found between follow-up probe performance and the dosage metrics. Conclusions Only a few treatment sessions were needed to achieve initial positive changes in articulation, with mastery occurring within 12–14 sessions for the majority of participants. Earlier occurrence of change or mastery was associated with better follow-up performance. Supplemental Material https://doi.org/10.23641/asha.12592190


2016 ◽  
Vol 22 ◽  
pp. 145-146
Author(s):  
Tiffany Schwasinger-Schmidt ◽  
Georges Elhomsy ◽  
Fanglong Dong ◽  
Bobbie Paull-Forney

1994 ◽  
Vol 92 (4) ◽  
pp. 535-542 ◽  
Author(s):  
Terence M. Murphy ◽  
Jessica M. Utts

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