Trisomies 18 and 21 are genetic disorders in which cells possess an extra copy of each of the relevant chromosomes. Individuals with these disorders who survive birth generally have a shortened life ...expectancy. As telomeres are known to play an important role in the maintenance of genomic integrity by protecting the chromosomal ends, we conducted a study to determine whether there are differences in telomere length at birth between individuals with trisomy and diploidy, and between trisomic chromosomes and normal chromosomes. We examined samples of peripheral blood lymphocytes (PBLs) from 31 live neonates (diploidy: 10, trisomy 18: 10, trisomy 21: 11) and estimated the telomere length of each chromosome arm using Q-FISH. We observed that the telomeres of trisomic chromosomes were neither shorter nor longer than the mean telomere length of chromosomes as a whole among subjects with trisomies 18 and 21 (intra-cell comparison), and we were unable to conclude that there were differences in telomere length between 18 trisomy and diploid subjects, or between 21 trisomy and diploid subjects (inter-individual comparison). Although it has been reported that telomeres are shorter in older individuals with trisomy 21 and show accelerated telomere shortening with age, our data suggest that patients with trisomies 18 and 21 may have comparably sized telomeres. Therefore, it would be advisable for them to avoid lifestyle habits and characteristics such as obesity, cigarette smoking, chronic stress, and alcohol intake, which lead to marked telomere shortening.
•The first data of telomere length of 18 and 21 trisomy patients at chromosomal level•The telomere length in trisomies was not significantly shorter than that in controls.•The telomere lengths were very variable within the same cell, and individual at birth.•The telomere of the p-arm was longer than that of the q-arm in 32.3% of the subjects.•No specifically short telomeres on either arm of trisomic chromosomes at birth
The 3D nuclear architecture is closely related to cellular functions and chromosomes are organized in distinct territories. Quantitative 3D telomere FISH analysis (3D Q-FISH) and 3D super-resolution ...imaging (3D-SIM) at a resolution up to 80 nm as well as the recently developed combined quantitative 3D TRF2-telomere immune FISH technique (3D TRF2/Telo-Q-FISH) have substantially contributed to elucidate molecular pathogenic mechanisms of hematological diseases. Here we report the methods we applied to uncover major molecular steps involved in the pathogenesis of EBV-associated Hodgkin's lymphoma. These methods allowed us to identify the EBV-encoded oncoprotein LMP1 as a key element in the formation of Hodgkin (H-cell) and multinucleated Reed-Sternberg cells (RS-cell), the diagnostic tumor cell of classical Hodgkin's lymphoma (cHL). LMP1 mediates multinuclearity through downregulation of shelterin proteins, in particular telomere repeat binding factor 2 (TRF2).
Background
The “telo-velar” approach is an alternative to cerebellar splitting to gain access to the fourth ventricle through the so-called cerebello-medullary fissure (CMF).
Method
In this approach, ...the CMF is exposed and access to the ventricle is obtained by incising the tela chorioidea and inferior medullary velum. This approach enables the exploration of the entire ventricle cavity from the obex to the aqueduct.
Conclusions
The exposure of the fourth ventricle is satisfactory and the floor of the fourth ventricle can be visualised early and protected. The extent of resection and outcome are satisfactory in most patients, including those with large tumours or lesions attached to the lateral or superolateral recesses of the ventricle. The deep rostral tumour attachment is the main limitation of the telo-velar approach
Key Points
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Early exposure of the interface lesion-floor of the fourth ventricle favours a safer tumour dissection.
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We feel that resection of tonsils is not necessary in the surgical setting.
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The posterior arch of C1 should be removed only if the tonsils are below the level of the foramen magnum.
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The improved access to the lateral recess of the ventricle makes the telo-velar approach particularly effective in lesions attached to cerebellar peduncles.
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The wide dissection of the cerebello-medullary fissure and gentle tonsils retraction may prevent from the occurrence of cerebellar mutism or other major cerebellar dysfunctions.
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Even the bilateral opening of the CMF does not result in cerebellar mutism if wide and cautious dissection, avoiding retraction and vascular injuries, is obtained.
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The exposure of the fourth ventricle was satisfactory also in patients harbouring lesions attached to the lateral or even the superolateral recesses of the ventricle.
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A deep rostral tumour attachment seems to be, at least in our experience, the main specific limitation of the telo-velar approach.
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The risk of hydrocephalus can be reduced by opening of the fissure bilaterally, exposing the aqueduct, and by cisterna magna-fourth ventricle communication augmentation.
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The EVD is taken in place for 48-72 h to prevent possible abrupt increase of the intracranial pressure and to favour wound closure.
Pričujoč prispevek je nekoliko spremenjen izsek iz doktorske disertacije z naslovom Hiša kot prostor identitete; oblikovanje bivalne kulture in percepcije telesnosti na Japonskem: primer mesto ...Kanazawa. Obravnava oblikovanje identitet kot proces identifikacije, ki je prostorsko situiran proces, in se osredotoča na eno izmed metafor prostora, in sicer na telo in na njegovo gibanje in percepcijo. Telesenje je namreč proces v katerem skozi gibanje nastaja prostor v okviru socializacije in učenje telesa. Pri ustvarjanju prostora se izoblikujejo določeni občutki, ki so pomembni za posameznikovo identiteto. Eden izmed prostorov, ki ustvarjajo močne občutke pripadnosti nekemu kraju, je tudi bivalno okolje.
Analysis of the lexemes telo and put arrives to the conclusion that the original iconicity of the lexeme telo “body” (<*tel- “a flat surface, a plank”) represents the formation of the amorphous, ...unformed substance under a pressure, compressing, or division (a cutting off or separation) and refers to the earth or tree as a form of matter. Put/plot (<ie. *pelH- “to cover, skin”) implies the subjective sensations of the body gathered through its own sensitive interface, in which arises the sensitive desire which along with another body initiates a new, alive and sensitive body. The metaphors of the body function like the metaphors of the interrelation between parts and the whole – the human body on a symbolic plane represents a part of the social and cosmic organism so that the metamorphosis of the bodily into the related and social as well as of the bodily, related, and social into the cosmic level is apparent in many ways, from the notion of people as an enlarged family, through the concept of the religious community which establishes itself through eating of the body and drinking of the divine blood, and the mythic accounts of the creation of the cosmos by way of the dismemberment of the divine body, or by way of elemental catastrophes caused by the waywardness of single individuals.
There is very little reliable information about the forces needed to cause injury to the human body. Namely, it is very difficult to obtain reliable reports about the influence of mechanical forces ...and the subjective reaction to these forces, mainly due to the complexity and diversity of the human body in both physical and behavioral aspects.The need for the study of physical, physiological and psychological reactions of living beings in a laboratory, under controlled conditions, has led to the development and use of specialized devices for the simulation of impact and vibrations in order to carry out experiments on humans and animals. "Anthropometric" or "anthropomorphic" dummies that simulate the basic static and dynamic properties of the human body are widely used in the study of plane and car crashes. Thus, for example, a Hybrid III dummy is used in case of a frontal crash of the car. Various research works about automotive and aviation accidents as well as experiments with both dummies and living beings show that full support to the body and limiting the movement of the limbs provide maximum protection from the forces of acceleration. / На сегодняшний день имеется недостаточно достоверной информации о силах, которые приводят к различным травмам пассажиров. В частности, трудно получить достоверные данные о влиянии механических сил и о субъективной реакции на эти силы, в основном из-за широкого разнообразия человеческого организма, как в физическом смысле, так и в отношении их реакции. Необходимость лабораторного изучения физических, физиологических и психологических реакций живых существ в контролируемых условиях способствовала развитию и применению широкого спектра специализированнных устройств для моделирования ударов, столкновений и вибраций, используемых в экспериментах на людях и животных. Антропометрические или антропоморфные манекены, имитирующие основные статические и динамические качества человеческого тела, широко используются в исследованиях авиационных и автомобильных аварий. Так, например, гибридный манекен, Hybrid III dummy, употребляют в случае лобового столкновения автомобилей. Разнообразные исследования автомобильных и авиационных аварий, а также опыты с манекенами и живыми существами показывают, что устойчивое фиксированное положение тела и ограничение подвижности конечностей обеспечивают максимальную защиту от силы разгона и дают большие шансы на выживание. / O silama koje su potrebne da izazovu povrede na ljudskom telu postoji vrlo malo pouzdanih informacija. Naime, veoma je teško doći do pouzdanih podataka o uticaju mehaničkih sila i o subjektivnoj reakciji na ove sile, uglavnom zbog kompleksnosti i raznolikosti ljudskog tela, kako u fizičkom smislu, tako i u pogledu ponašanja. Potreba za proučavanjem fizičkih, fizioloških i psiholoških reakcija živih bića u laboratoriji, pod kontrolisanim uslovima, dovela je do razvoja i upotrebe širokog spektra specijalizovanih uređaja za simulaciju udara i vibracija za eksperimente na ljudima i životinjama. 'Antropometričke' ili 'antropomorfne' lutke, koje simuliraju osnovne statičke i dinamičke osobine ljudskog tela, uveliko se koriste u istraživanju avionskih i automobilskih nesreća. Tako, na primer, hibridna lutka, Hybrid III dummy, koristi se u slučaju čeonog automobilskog sudara. Razna istraživanja automobilskih i vazduhoplovnih nezgoda, kao i eksperimenti sa lutkama i živim bićima, pokazuju da potpuna potpora tela i ograničenje kretanja ekstremiteta obezbeđuju maksimalnu zaštitu od sila ubrzanja.
This book details results from the human genome project and presents the crossover to the human metagenome/microbiome. It brings a new perspective by combining information gained from the human ...genome with that derived from parallel metagenomic studies.
Recently, omega-3 fatty acids are in the center of attention for their potent anti-inflammatory effects. Osteoporosis as a chronic senile disease is associated with inflammation, and the role of ...inflammatory mediators has been demonstrated in the recent years. The beneficial effects of n-3 fatty acids on bone were proven in many animal studies, while to date, no conclusive data is available in human. The aim of this study was to evaluate the impact of n-3 fatty acids on bone biomarkers in osteoporotic women.
Forty osteoporotic post-menopausal women were recruited in the study and randomized in receiving either 40 g canola oil or the same amount sunflower oil per day as their dietary oil for 3 months. Serum levels of osteocalcin, bone alkaline phosphatase (BALP), N telo peptide collagen (NTX) and 25- hydroxy vitamin D3 were measured at baseline and at the end of the third month in both groups.
In the canola oil group, BALP and NTX were increased after 3 months while Osteocalcin decreased in both groups slightly; however,none of these changes were significant. In both groups, serum vitamin D3 was increased significantly; however, this change between groups was not significant.
Canola oil did not affect bone formation and resorption significantly after 3 months consumption. Further investigations with longer follow up are recommended.
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