genetics

This is a literature review study focusing on the expression of p53 and WT1. Both the p53 and WT1 proteins are tumor suppressors, which means that they play a role in preventing the progression into cancerous ones. If these proteins are altered or deleted, they lose the ability to carry out their role, which might result in the development of cancer. The primary objectives of this study were to review the literature regarding the expression of both p53 and WT1 and to investigate their prognostic significance; and to discuss our new hypothesis regarding the ratios of expression of WT1/p53, as well as our model regarding acute myeloid leukemia. In brief, the objectives were to make the focus in the suggested hypothesis as well as collecting the supportive literature. According to the findings of the current research, the level of expression of WT1 and p53 can indicate either a favorable or unfavorable prognosis for cancer patients. Further, we demonstrated that the expression, not just as a quality variable but also as a quantity variable, may have a more substantial explanation in the progression of tumors than we had previously thought. According to the theory that was derived from this research, if the expression of WT1/p53 (the expression is given as a ratio) is somewhere around 4, then p53 acts as though it were wild type and offers protection against tumors. In order to verify this idea, we need to do additional study.

Known since antiquity, migraine is a complex primary disorder, an episodic painful Autonomic Nervous System (ANS) storm, generally following the stress/post-stress phase. Despite exhaustive study of neuropeptides, neurochemicals, molecules, neurogenetics, neuroimaging along with animal and human experiments over the last 50 years, the scientific basis of migraine remains unknown. Straddling eight decades from Cortical Spreading Depression (CSD) to Calcitonin-Gene Related Peptide (CGRP) and its antagonists, exponentially increasing data have failed to create a gestalt synthesis. This article lays cohesive and robust fundamental principles for the comprehension and management of migraine. The continuum between migraine and non-congestive Primary Open-Angle Glaucoma (POAG), Normal Tension Glaucoma (NTG), or Low-Tension Glaucoma (LTG) is advancing. The case of sustained remission of migraine attacks (> 75%) over 3 years - 5 years with ocular hypotensive topical Bimatoprost Ophthalmic Solution (BOS) 0.3% in an N-of-1 trial in 3 patients with refractory migraine is presented. A cause-effect-adaptive process underlies the ANS-stress/post-stress-linked biology of migraine. Vasopressin-serotonin-norepinephrine ‘homeostatic-adaptive system’ Lowers Intraocular Pressure (IOP), while enhancing anti-stress, antinociception, vasomotor, and behaviour control functions, thereby selectively decreasing algogenic neural traffic in the ophthalmic division of trigeminal nerve (V1), and, raising the threshold to develop migraine. Striking migraine headache-aborting feature of vomiting is also likely linked to a several hundred-fold increase in arginine-vasopressin secretion. Eye-cover tests and self-ocular digital displacement are essential to studying the visual aura. Real-time physical displacement of Scintillating Scotoma (SS) and floating ‘stars’ is reported. The basis of spontaneous onset and offset, self-limited duration of migraine attacks, as well as female preponderance, and age/menopause decline in prevalence, are elucidated. Intraocular implants with long-term ocular hypotensive effects, including bimatoprost, are the future of migraine management. Controlled trials are required to establish the migraine-preventive effect of topical bimatoprost, a revolutionary advance in neuroscience.

Sepsis, a life-threatening condition triggered by infection, poses a significant healthcare challenge with high mortality rates. The interplay between genetics and the immune response in sepsis, particularly in surgical and trauma patients, is complex and critical. Genetic polymorphisms, particularly in cytokine genes like TNF-α, IL-6, and IL-8, have been extensively studied for their influence on sepsis susceptibility, severity, and outcomes. Polymorphisms can alter gene expression and cytokine production, leading to variations in immune responses. Studies have also explored polymorphisms concerning sepsis in genes encoding CD86, TLR4, and SIRT6. This review highlights the association between genetic polymorphisms and inflammatory responses, focusing on their impact on sepsis outcomes in surgical and trauma patients. Genetic variations play a significant role in sepsis risk, severity, and prognosis, with potential implications for personalized therapeutic strategies. Biomarkers such as cytokine gene polymorphisms may aid in predicting sepsis risk and guiding treatment decisions. Complementary therapies like acupuncture and novel biomarkers like microvesicles carrying mitochondrial content provide additional avenues for personalized sepsis management. Furthermore, multiomics approaches offer promise in predicting postoperative outcomes in surgical patients. Understanding the genetic basis of sepsis is essential for improving prevention, diagnosis, and treatment, ultimately leading to better clinical outcomes. Combining genomics, bioinformatics, and clinical expertise, precision medicine can revolutionize sepsis management by tailoring interventions to individual genetic profiles, thus enhancing patient care and outcomes.

A recurrent miscarriage may be defined in the African context as the foetal demise of two or more successive pregnancies before the attainment of the age of viability. A literature review was done to assess the trend of recurrent miscarriage in sub-Saharan Africa. Identifying the main causes, considering the population at risk, and the availability of accurate diagnostic utilities to effectively ensure good management of recurrent miscarriage is an important gynaecologic issue. Over the years, studies have identified several etiologies and yet there’s been no tangible implementation of therapeutic strategies. Routine modifications should also be employed to develop new approaches to reproductive prognosis. There is notably scanty information on the cases of spontaneous abortion due to chromosomal abnormalities. Genetic and immunological factors should be considered in the work-up plan for women with RM. About 70% of the cases of RM are considered unexplained, and this may be due to limited resources. We concluded that there is relatively poor management of miscarriage and cases of missed and inaccurate diagnosis of the causes of spontaneous abortion in sub-Saharan Africa. More studies are needed in order to assess the extent of genetic induced miscarriage, where resources are limited, folic acid supplements should be provided for pregnant women.

The Enterprise Radiation Forest (ERF) study was initially introduced as a topic of discussion at the Institute of Forest Genetics, USDA, USFS, in the late 1960s. During that period, a program was endorsed for investigating the impacts of radiation on the forest ecosystem. The rationale for this was to facilitate the prediction of potential outcomes in the occurrence of a nuclear disaster. The research location was situated within the forested lands in Enterprise of Oneida County, Wisconsin, United States. The radiation source in question was a 10,000 curie source of Cesium-137, characterized by a halflife of 33 years. Furthermore, a study concerning lichens was also carried out, the data, photographs, and micrographs were meticulously gathered to illustrate the pre-irradiation activity of the species. This subject holds significant value for dissemination among peers in the scientific community, particularly considering the resilience exhibited by natural ecosystems in response to varying levels of radiation. The information is reviewed with the objective of the entire program to ascertain the potential consequences for a northern forest ecosystem in the event of a nuclear disaster, in addition to the two publications from the Atomic Energy Commission.

Background: The amygdala is a core structure in the mammalian brain that processes emotion and memory. Its complex neuronal composition and intricate microcircuit mechanisms play key roles in behaviors such as fear, anxiety, and reward. The diversity of neuronal types and the dynamics of these microcircuits provide the neural foundation for the encoding and extinction of fear memories.Aim: This is a retrospective review article summarizing recent research on the amygdala and fear behavior in mice, which is of significant importance in helping people to comprehensively understand and recognize that the amygdala is the core regulator of fear behavior.Methodology: An extensive and systematic search of electronic databases (Medline, PubMed, Web of Science) using keywords related to the amygdala and the technologies involved in the study such as “mouse amygdala,” “basolateral amygdala (BLA),” “central amygdala (CeA),” “fear extinction,” “fear learning,” and “microcircuits.” Articles meeting the selection criteria were included as candidate references.Results: By integrating recent findings from optogenetics, chemogenetics, and single-cell sequencing, this review reveals the interactions between glutamatergic projection neurons and GABAergic interneurons in the amygdala, the functional division between subnuclei, and the neural basis of cross-brain area coordination. Additionally, it discusses the technical challenges in amygdala research and future directions, providing theoretical support for understanding the pathophysiology of emotional disorders.Conclusion: The amygdala is intimately linked to emotional health, playing a critical role in understanding the mechanisms underlying the development of psychiatric disorders such as anxiety, depression, addiction, and post-traumatic stress disorder (PTSD). Despite advances in methodologies such as in vivo calcium imaging, neural circuit tracing, and electrophysiological techniques, which are progressively uncovering the underlying mechanisms of amygdalar regulation of emotional behaviors, the intrinsic microcircuitry of the amygdala remains highly complex. Significant gaps persist, necessitating further exploration and refinement to elucidate unresolved aspects of its functional architecture and behavioral modulation.

Background & objectives: Mitochondrial DNA (mtDNA) contains valuable genetic information and plays a crucial role in missing person investigations, mass disasters, and forensic cases involving limited or degraded biological material. mtDNA is maternally inherited, with a highly variable control region divided into three hypervariable regions are generally used for forensic investigation. This study aimed to evaluate maternal inheritance patterns of mtDNA using PCR-RFLP techniques to confirm maternal relatedness. Method: The study was designed after prior permission from the institute’s ethical committee in which subjects were enrolled. This pilot study analyzed 50 voluntary participants (mother-child pairs). DNA was extracted from blood or saliva, and the mtDNA hypervariable region (HV region) was amplified by PCR using specific primers for the HV1 region. The amplified fragments (1024 bp) were subjected to RFLP analysis using seven restriction endonucleases (Alu I, BsuR I (Hae III), Hinf I, HsYF31 (Dde I), Mbo I, Rsa I, and SsPI) to reveal morphotypes. Results: The study identified five morphotypes for Alu I, three for BsuR I (Hae III) and Rsa I, two for Hinf I, and one each for HsYF31 (Dde I), Mbo I, and SsPI. There was minimal genetic polymorphism in the hypervariable region among unrelated individuals, but consistent restriction patterns were observed between mothers and their children in same pair. Conclusion: The findings demonstrate the low genetic polymorphism in the hypervariable region among unrelated individuals and consistent restriction patterns within maternal pairs, underscoring mtDNA's utility in forensic and genealogical applications.