Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2.

Neurocutaneous syndromes, known as phakomatoses, encompass a diverse group of congenital conditions affecting the nervous system and skin, with neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) among the most clinically significant. Both disorders are inherited in an autosomal dominant manner. NF1 presents with café-au-lait macules; cutaneous, subcutaneous, and plexiform neurofibromas; skeletal abnormalities; learning disabilities; and optic pathway gliomas, while NF2 is characterised by bilateral vestibular schwannomas, multiple meningiomas, ependymomas, and peripheral nerve schwannomas.

Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence.

Mitochondrial dysfunction is a key driver of neurological disorders due to the brain's high energy demands and reliance on mitochondrial homeostasis. Despite advances in genetic characterization, the heterogeneity of mitochondrial diseases complicates diagnosis and treatment. Mitochondrial dysfunction spans a broad clinical spectrum, from early-onset encephalopathies to adult neurodegeneration, with phenotypic and genetic variability necessitating integrated models of mitochondrial neuropathology.

Unveiling the Effects of Natural Disasters and Nuclear Energy on the Secondary Sex Ratio: A Comprehensive Review.

The secondary sex ratio (SSR), defined as the ratio of male to female births in a population, has long been a subject of scientific inquiry due to its potential as a health indicator. The interplay between catastrophic events and the delicate balance of male and female births presents a nuanced and compelling study area. Natural disasters, such as earthquakes, hurricanes, floods, and volcanic eruptions, have been known to disrupt ecosystems and human populations, leading to both short-term and long-term consequences.

Waldenström Macroglobulinemia: The Role of TP53 Mutations in Disease Progression and Therapeutic Response.

Waldenström Macroglobulinemia (WM) is a rare, indolent B-cell lymphoproliferative disorder characterized by the production of monoclonal IgM paraprotein and infiltration of the bone marrow by lymphoplasmacytic cells. While WM generally exhibits a slow clinical course, it has the potential to progress into more aggressive hematologic malignancies, such as diffuse large B-cell lymphoma. The gene, often referred to as the "guardian of the genome", plays a pivotal role in maintaining genomic stability, regulating the cell cycle, and orchestrating apoptosis.

Innovations in MALDI-TOF Mass Spectrometry: Bridging modern diagnostics and historical insights.

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) is a robust analytical technology that has become integral to biomolecular research. Since its introduction into microbiology in the early 2000s, its versatility has enabled a wide spectrum of applications extending from routine microbial identification to advanced proteomic profiling, antimicrobial resistance testing, biomarker discovery, and even historical disease investigation. In proteomics, MALDI-TOF MS has proven valuable for identifying disease-associated proteins, with applications in oncology, metabolic disorders such as diabetes and dyslipidemia, neurodegenerative diseases, hemoglobinopathies, and neonatal screening.

Correlation of CLDN18.2 and Tumor Microenvironment in Gastric Cancer: A Systematic Review.

: Gastric cancer (GC) is the fifth leading cause of cancer-related mortality. CLDN18.2 is a tight junction protein, expressed in gastric mucosa and is considered as a novel therapeutic target.

Epidemiological and Histopathological Characteristics of Fetuses with Congenital Disorders: A Study in Greece.

Congenital malformations constitute a major public health issue. Nonetheless, Greece does not participate in the European network of congenital anomalies. To examine the epidemiology of congenital abnormalities and investigate possible factors associated with their development, autopsies were performed on 649 fetuses referred from three healthcare facilities in Thessaloniki during 1992-2008.

Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia.

Neurocutaneous syndromes represent a clinically and genetically heterogeneous group of disorders, with tuberous sclerosis complex (TSC), von Hippel-Lindau syndrome (VHL), and ataxia-telangiectasia (A-T) exemplifying some of the most complex entities within this category. These syndromes have traditionally been considered monogenic disorders, caused by germline mutations in tumor suppressor or regulatory genes. However, they exhibit a striking degree of phenotypic variability and divergent clinical trajectories that cannot be fully explained by their underlying genetic alterations alone.

Genetic Basis of Motor Neuron Diseases: Insights, Clinical Management, and Future Directions.

Motor neuron diseases (MNDs) are a heterogeneous group of neurodegenerative disorders characterized by the progressive loss of motor neurons, resulting in debilitating physical decline. Advances in genetics have revolutionized the understanding of MNDs, elucidating critical genes such as , , , and , which are implicated in their pathogenesis. Despite these breakthroughs, significant gaps persist in understanding the interplay between genetic and environmental factors, the role of rare variants, and epigenetic contributions.

The impact of infections and genetics on secondary sex ratio.

The secondary sex ratio (SSR), which reflects the proportion of male to female offspring at birth, is influenced by a complex interplay of multiple factors. This review delves into the current understanding of how infections and genetics contribute to variations in the SSR. The effects of infections on the SSR represent an intriguing intersection of biology and epidemiology.

Human Brain Inspired Artificial Intelligence Neural Networks.

It is becoming increasingly evident that Artificial intelligence (AI) development draws inspiration from the architecture and functions of the human brain. This manuscript examines the alignment between key brain regions-such as the brainstem, sensory cortices, basal ganglia, thalamus, limbic system, and prefrontal cortex-and AI paradigms, including generic AI, machine learning, deep learning, and artificial general intelligence (AGI). By mapping these neural and computational architectures, I herein highlight how AI models progressively mimic the brain's complexity, from basic pattern recognition and association to advanced reasoning.

Epigenetics in Skin Homeostasis and Ageing.

The skin, the largest organ of the human body, plays numerous essential roles, including protection against environmental hazards and the regulation of body temperature. The processes of skin homeostasis and ageing are complex and influenced by many factors, with epigenetic mechanisms being particularly significant. Epigenetics refers to the regulation of gene expression without altering the underlying DNA sequence.

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination.

The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X-ray examination revealed significant abnormalities, including skeletal malformations with prominent TD-1 femur curvature. Microscopical evaluation indicated inadequate histological growth for the gestational age, with specific organ immaturity noted in multiple hematoxylin and eosin sections from internal organs, bone from epiphyses and diaphyses levels.

Impact of Mast Cell Activation on Neurodegeneration: A Potential Role for Gut-Brain Axis and Infection.

Background: The innate immune response aims to prevent pathogens from entering the organism and/or to facilitate pathogen clearance. Innate immune cells, such as macrophages, mast cells (MCs), natural killer cells and neutrophils, bear pattern recognition receptors and are thus able to recognize common molecular patterns, such as pathogen-associated molecular patterns (PAMPs), and damage-associated molecular patterns (DAMPs), the later occurring in the context of neuroinflammation. An inflammatory component in the pathology of otherwise "primary cerebrovascular and neurodegenerative" disease has recently been recognized and targeted as a means of therapeutic intervention.

ADNP is essential for sex-dependent hippocampal neurogenesis, through male unfolded protein response and female mitochondrial gene regulation.

Essential for brain formation and protective against tauopathy, activity-dependent neuroprotective protein (ADNP) is critical for neurogenesis and cognitive functions, while regulating steroid hormone biogenesis. As such, de novo mutations in ADNP lead to syndromic autism and somatic ADNP mutations parallel Alzheimer's disease progression. Furthermore, clinical trials with the ADNP fragment NAP (the investigational drug davunetide) showed efficacy in women suffering from the tauopathy progressive supranuclear palsy and differentially boosted memory in men (spatial) and women (verbal), exhibiting prodromal Alzheimer's disease.

Application of Mesenchymal Stem Cells in Female Infertility Treatment: Protocols and Preliminary Results.

Infertility is a global phenomenon that impacts people of both the male and the female sex; it is related to multiple factors affecting an individual's overall systemic health. Recently, investigators have been using mesenchymal stem cell (MSC) therapy for female-fertility-related disorders such as polycystic ovarian syndrome (PCOS), premature ovarian failure (POF), endometriosis, preeclampsia, and Asherman syndrome (AS). Studies have shown promising results, indicating that MSCs can enhance ovarian function and restore fertility for affected individuals.

Targeting CNS myeloid infiltrates provides neuroprotection in a progressive multiple sclerosis model.

Demyelination and axonal injury in chronic-progressive Multiple Sclerosis (MS) are presumed to be driven by a neurotoxic bystander effect of meningeal-based myeloid infiltrates. There is an unmet clinical need to attenuate disease progression in such forms of CNS-compartmentalized MS. The failure of systemic immune suppressive treatments has highlighted the need for neuroprotective and repair-inducing strategies.

Genetic Identity of Neural Crest Cell Differentiation in Tissue and Organ Development.

The neural crest (NC), also known as the "fourth germ layer", is an embryonic structure with important contributions to multiple tissue and organ systems. Neural crest cells (NCCs) are subjected to epithelial to mesenchymal transition and migrate throughout the embryo until they reach their destinations, where they differentiate into discrete cell types. Specific gene expression enables this precise NCCs delamination and colonization potency in distinct and diverse locations therein.

The Impact of Lifestyle on the Secondary Sex Ratio: A Review.

The secondary sex ratio (SSR), indicating the ratio of male to female live births, has garnered considerable attention within the realms of reproductive biology and public health. Numerous factors have been posited as potential trendsetters of the SSR. Given the extensive research on the impact of daily behaviors and habits on individuals' reproductive health, there is a plausible suggestion that lifestyle choices may also influence the SSR.

Ovariectomy and High Fat-Sugar-Salt Diet Induced Alzheimer's Disease/Vascular Dementia Features in Mice.

While the vast majority of Alzheimer's disease (AD) is non-familial, the animal models of AD that are commonly used for studying disease pathogenesis and development of therapy are mostly of a familial form. We aimed to generate a model reminiscent of the etiologies related to the common late-onset Alzheimer's disease (LOAD) sporadic disease that will recapitulate AD/dementia features. Naïve female mice underwent ovariectomy (OVX) to accelerate aging/menopause and were fed a high fat-sugar-salt diet to expose them to factors associated with increased risk of development of dementia/AD.

Effects of hazardous chemicals on secondary sex ratio: A comprehensive review.

The secondary sex ratio (SSR), defined as the ratio of male to female offspring at birth, has garnered significant scientific interest due to its potential impact on population dynamics and evolution. In recent years, there has been a growing concern regarding the potential consequences of environmental chemicals on the SSR, given their widespread exposure and potential enduring ramifications on the reproductive system. While SSR serves as an indicator of health, ongoing research and scientific inquiry are being conducted to explore the potential relationship between chemicals and offspring ratio.