Journal of Experimental Neurology

The nature of gene mutations induced by ionizing radiation in germ cells and transmitted to offspring remains one of the most important problems in radiation genetics of higher eukaryotes. The data accumulated in this field were obtained by different authors under different experimental conditions which does not give a complete insight about the nature of radiation-induced inherited mutations at different genome levels (chromosome, gene, DNA). 

Balanced translocation resulting in fusion of the Abelson gene (ABL₁) from chromosome 9q34 with the breakpoint cluster region (BCR) gene on chromosome 22q11.2 is the pathognomonic molecular driver of CML. The resulting BCRABL 1 fusion gene is both the diagnostic as well as therapeutic target of CML. The first agent with tyrosine kinase inhibitor activity that was licenced in 2000 for treatment of CML patients, was Imatinib, gradually followed by multiple agents with higher efficacy.

Bacterial communication via quorum sensing (QS) molecules, as well as toxin-antitoxin (TA) gene modules located on bacterial chromosomes are well-studied mechanisms. Escherichia coli mazEF is a stress-induced TA system mediating cell death requiring a QS extracellular death factor (EDF), the pentapeptide NNWNN. MazF is an endoribonuclease specific for ACA sites. During adverse conditions, the activated MazF generates a stress induced translation machinery, composed of MazF-processed mRNAs and selective ribosomes that specifically translate these processed mRNAs.

Apoptosis is a physiological response in development and homeostasis of metazoans. Apoptosis is triggered during pathological events as a means to renew affected tissues and eliminate cancer cells. The immune system regulates the extrinsic pathway of apoptosis, where signals such as TNFα or displayed ligands on the surface of immune cells trigger signal cascades by death receptors present on targeted cells.

NOBOX is an ovarian specific transcription factor that plays an important role in follicular growth and survival. Nineteen NOBOX variants have been previously associated with premature ovarian insufficiency (POI). Disease severity in patients with heterozygous and homozygous mutations largely overlap however, hampering genotype-phenotype correlations. We recently reported the first case of biallelic truncating mutations (NM_001080413.3 (NOBOX):c.826C>T, p.(Arg276*) and NM_001080413.3(NOBOX):c.1421del, p.(Gly474Alafs*76)) of NOBOX in two Belgian sisters with POI.

Cancer has its own disease burden and patients usually suffer from symptom clusters when they are referred for palliative treatment. Identification of symptom cluster trajectories will help clinician to take into account measures that can optimize quality of life of palliative patients. Therefore the aim of this paper is to determine the overall prevalence of symptoms and symptoms clusters in different disease groups according to etiology at the time of first visit to Palliative care clinic by using HIS Palliative First Assessment note indicating Edmonton symptom scale.

Proton minibeam radiotherapy (pMBRT) is an external beam radiotherapy method with reduced side effects by taking advantage of spatial fractionation in the normal tissue. Due to scattering, the delivered small beams widen in the tissue ensuring a homogeneous dose distribution in the tumor. In this review, the physical and biological principles regarding dose distribution and healing effects are explained. In the last decade, several preclinical studies have been conducted addressing normal tissue sparing and tumor control in-vitro and in-vivo, using human skin tissue and mouse or rat models. The major results acquired in these studies are summarized. A further newly emerging therapy method is FLASH radiotherapy, i.e. the treatment using ultra-high dose rates. The possibility of combining these methods in proton minibeam FLASH therapy (pMB FLASH) is worked out. Additionally, technical feasibility and limitations will be discussed by looking at simulations as well as preclinical studies and also pointing out new ways of delivering the desired tumor dose, such as interlacing. We will also highlight the opportunities that emerge regarding high dose radiation, hypofractionation and the combination with immunotherapy.

Damage-Associated Molecular Patterns (DAMPs) are known by their nature to cause inflammatory responses in numerous disease states from cancer, trauma to age related diseases (e.g. atherosclerosis, Alzheimer’s and Parkinson’s diseases), these molecules are released by cells undergoing cell death.

The transient receptor potential mucolipin 1 (TRPML1) is an endolysosomal channel belonging to the TRP family. Clinically, mutations of TRPML1 have been responsible for a severe lysosomal storage disorder called mucolipidosis type IV.

It is now well accepted that the ionizing radiation-generated reactive oxygen species (ROS), that constitute ~2/3 of the effects of external beam radiation, do not only produce direct tumor cell death, but also affect the surrounding microenvironment. Moreover, this indirect effect of radiation may result in systemic effects, specifically the initiation of an inflammatory response.

N4-acetylcytidine (N4A) is an organic compound and a metabolite of transferrable ribonucleic acid. Its molecular formula is C11H15N3O6. Earlier studies suggest that N4A was mainly found on tRNA and 18S rRNA, while recent studies have shown that there is also a large amount of N4A on mRNA, whose abundance is not even lower than the m7G cap modification carried by mRNA.

Malaria is one of the most important disabling human, tropical disease caused by different Plasmodium species, which are protozoan parasites belonging to the Apicomplexa. The Apicomplexan parasites have a plastid like structure the “apicoplast” and comprise the genera Plasmodium, Toxoplasma and Cryptosporidium causing malaria, toxoplasmosis, and cryptosporidiosis.

While the global COVID-19 pandemic has challenged the entire humanity and health systems, it also triggered researchers to urgently perform clinical trials to assess the safety and efficacy of many agents and modalities to combat COVID-19. As of April 22, over 650 clinical studies have been registered both in USA and internationally. Results from these studies are also coming at a brisk pace in this unprecedented emergency.

Considering their outstanding mechanical character, it is inevitable to utilize titanium and titanium composite for biomedical engineering application [1-6]. However, the particles releasing from these bulks or composites of biomaterials after long term implanting in human body will cause cell apoptosis or cell death, inflammation, bone

In the process of rhegmatogenous retinal detachment (RRD), retinal homeostasis may be adversely affected with resultant modifications in retinal and choroidal tissue. Hypoxia and nutrient deprivation along with inflammation at the detached retina may lead to morphological and microvascularity alterations. These changes imply that the functional status of the macula may not be entirely restored despite anatomical repair.

Ketamine has long been used in the field of anesthesia [1]. Its rapid and long-acting analgesic effects associated with its dissociative properties have also established its use in prehospital and emergency department patients.

Multiple types of discrete melanocytic choroidal lesions are currently recognized, including benign choroidal nevi, choroidal malignant melanomas, patches of choroidal melanocytosis, and foci of choroidal melanocytes stimulated paraneoplastically by a systemic nonmelanoma malignant neoplasm.

In last decades, video-assisted thoracic surgery (VATS) together with robotic-assisted thoracic surgery (RATS) can be considered the biggest innovation in thoracic surgery. This approach drastically changed the way of performing surgical operations, improving patient’s outcome undergoing thoracic surgery.

The currently ongoing coronavirus pandemic, the SARSCOV- 2, interchangeably referred to as the COVID-19 infection, has in a short span of time altered the ways and means of almost all of mankind. So strong has been its effect that all human activity ceased in one way or another for a considerable time, led to significant loss of life and economic drain of.