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Beyond the Mutation: A Closer Look at Birt-Hogg-Dubé Syndrome
This commentary aims to delve into the diagnostic challenges associated with Birt-Hogg-Dubé (BHD) syndrome, as outlined in the BMJ case report titled “A Case of Phaeochromocytoma in a Female Patient with Phenotypical Expressions for the Rare Birt-Hogg-Dubé (BHD) Syndrome” (doi:10.1136/bcr-2022- 252362) [1]. BHD syndrome is a rare genetic disorder that is inherited in an autosomal dominant manner and is caused by mutations in the FLCN gene on chromosome.
Exogenous Heat Shock Proteins HSPA1A and HSPB1 Interact with TLR2, TLR4, TLR5, and TLR7 on Differentiated U937 Monocytic Cells
Biological cells are sensitive to both pathological and non-pathological stress, which can activate the innate immune response. This activation often involves the release of heat shock proteins (HSPs), such as HSPA1A and HSPB1. However, the implications and relationships between HSP release and immune system activation remain unclear. While evidence suggests that HSPs play a role in immune system activation and regulation, their immune regulatory characteristics are still debated.
Evaluation of Neutrophil Elastase Inhibitors as Potential Therapies for ELANE Associated Neutropenia
Neutrophil elastase (ELANE) mutations are the most common cause of cyclic (CyN) and congenital neutropenia (SCN), two autosomal dominant disorders causing recurrent infections due to impaired neutrophil production. Granulocyte colony-stimulating factor (G-CSF) corrects neutropenia but has adverse effects, including bone pain and in some cases, an increased risk of myelodysplasia (MDS) and acute myeloid leukemia (AML). Hematopoietic stem cell transplantation is an alternative but is limited by its complications and donor availability. Alternative therapies are needed, particularly for patients with poor responses to G-CSF and those at higher risk of MDS/AML.
Polyamines: Key Players in Immunometabolism and Immune Regulation
Polyamines are small organic molecules ubiquitously present in all living organisms and function as crucial regulators of biological processes ranging from fundamental cellular metabolism to immune regulation. Dysregulation of polyamine metabolism has been implicated in numerous diseases, including neurodegenerative disorders, inflammatory conditions, autoimmune diseases, and cancer. This review provides an overview of pathophysiology of these conditions, highlighting polyamines’ role in immunometabolic alterations in the context of immune regulation.
Irradiation of Drosophila melanogaster Leads to Increased Autophagy in Multiple Adult Tissues
A common source of tissue toxicity is ionizing radiation to which humans can be exposed in a variety of ways including environmental contamination, radiotherapy, space and aviation travel. Radiotherapy is the most common method used to treat majority of cancers. However, the irradiation of patients can lead to many negative secondary effects causing irreparable internal organ damage due to its genotoxic effects and disruption of oxidative state of cells which, if left unresolved, can lead to cell death. Cells use autophagy as a homeostatic mechanism to remove debris and damaged organelle. However, it is not known whether autophagy is affected by radiation.
Telling Your Research Story
It is impossible for a person to begin to learn what he thinks he already knows. That's what Epictetus, the Greek Stoic philosopher, taught us two millennia ago. Yet somehow that lesson never made it to some of us – myself included. Rather, we have to learn it on our own and pay the appropriate price
Obesity and Beyond: The Novel Technical Standard to Study the Small Bowel Microbiome
The small intestinal microbiome (SIM) is colonized by a variety of bacteria, archaea, viruses, and eukarya which contribute to the overall health of the human host. Commensal bacteria of the small intestine are crucial suppliers of essential nutrients, aid in the metabolism of indigestible carbohydrates, provide defenses against pathogenic bacteria, and are critical components of the mucosal architecture.
Translating Molecular Heterogeneity into Precision Medicine for Advanced Liver Disease
Background: Liver fibrosis arises from chronic hepatic injury and involves the accumulation of extracellular matrix proteins. Fibrosis progression ultimately leads to cirrhosis, characterized by architectural distortion and complications. Molecular profiling has identified prognostic transcriptomic subtypes, but management remains limited for advanced disease. Methods: We conducted a systematic review of the literature to identify recent advances in characterizing liver cirrhosis subtypes and emerging therapies.
Could Ayahuasca Communities Play a Role in the Compassionate Communities Movement?: A Commentary
Globally, approximately 58 million deaths occur annually. Each death is estimated to directly affect about nine close relatives, underscoring that grief is not only a universal experience but also a potential recurrent process throughout life. Bereavement could trigger profound psychological and physiological reactions, including an elevated risk of cardiovascular complications. The risk of mortality is higher than in the general population, particularly among older adults following the death of a spouse.
HDAC Dynamics and GR Signaling: Neurobiological Insights and Antidepressant Potential
Histone deacetylases (HDACs) and glucocorticoid receptor (GR) signaling are critical in regulating gene expression and stress responses. Vorinostat, an HDAC inhibitor, shows significant promise in treating depression by modulating these pathways. This commentary explores HDAC inhibitor’s mechanisms, therapeutic potential, and the challenges in clinical application. It compares the effects of various HDAC inhibitors on GR signaling and neuroplasticity, emphasizing the importance of personalized treatment approaches.
Ethical Pearls in Fetal and Neonatal Cardiology
Working in health care institutions- deal with fetal/pediatric congenital heart diseases-build up moral sensitivity at different levels. Patient-family and doctor relationship starts from the moment family decides to seek medical/surgical advice. Parents ask everywhere to choose the best compassionate expert who could help at all levels. Mutual respect and trust are the first ethical values to launch the medical/surgical journey.
Using Drug-coated Balloons in Treating Coronary Bifurcation Lesions; Immediate and Short-term Outcomes
Coronary bifurcation lesions present a technical challenge during percutaneous coronary intervention (PCI), accounting for 15-20% of all cases. Drug-coated balloons (DCBs) have emerged as an alternative to drug-eluting stents (DES), offering the potential to reduce the risk of neointimal hyperplasia and the need for long-term dual antiplatelet therapy (DAPT).
Down Syndrome: Insights and Analysis
Normally, there are 23 pairs of chromosomes found in human beings. But in some conditions, a mother has a fetus with an additional chromosome at T21(21st position) which is said to be the fetus with Trisomy-21 (Down Syndrome). There are many factors of Down Syndrome - nasal bone absence, short nasal bone, thick amniotic fluid (greater than 3 mm), fetal heart rate (FHR), Crown Lump Length, short arm, and thighs’ bones; are screened during 10-14th (First Trimester) and 15-22nd week (Second Trimester) of pregnancy.
Protective and Therapeutic Efficacy of Palmitoylethanolamide in Diabetes Induced Renal Damage: A Narrative Review of Scientific Evidences
Diabetes is one of the most common metabolic conditions that can significantly impair the overall quality of life. Diabetic nephropathy is a diabetes-associated renal damage condition and one of the most common diabetes-induced renal complications. The hyperglycaemia associated with diabetes is considered one of the key factors associated with the renal damage. The endocannabinoid system is a complex biological process involved in various physiological activities, while its impairment is directly associated with numerous pathological conditions as well.
Helping vs. Preventing Harm: Reversing Mission Creep in Psychiatry
This essay discusses a shift in the priorities in the psychiatric community over the past several decades from one that focuses upon the relief of suffering toward one that emphasizes harm reduction and danger prevention. The essay reviews the various forces that have driven this evolution including legal decisions that have limited grounds for admission to dangerousness, models of care that emphasize “zero suicide,” a rise in liability for outpatient suicide and the resulting practice of defensive medicine.
Enhancing Maternal Health: Cost-effective Alternatives in High Pressure Processing of Fruit Products
The search for efficacious Alternatives to the Current Standard Procedure in the Food Manufacturing Industry is a public health imperative. Recent advances and rapid adoption of high-pressure processing units in food manufacturing is gaining momentum across various industry sectors. The momentum of industrial importance across various sectors of food manufacturing, has led to requiring extensive microbiological hurdle validation studies for efficacious and feasible utilization of the technology.
Tolerogenic De-liver-y: Glycopolymer-mediated Approaches to Induce Antigen-specific Tolerance
Numerous autoimmune diseases, which currently affect a sizable portion of the global population, are driven by aberrant autoantigen-specific T cell responses that result in tissue destruction and loss of function. Current therapeutics for autoimmunity are non-curative and rely on global immunosuppression, leaving patients vulnerable to opportunistic infections and malignancies. An ideal approach would suppress autoantigen-specific T cell responses while leaving the remainder of the immune system intact
Effects of Tumor-derived Small Extracellular Vesicles on T cell Survival in Patients with Cancer; A Commentary
Tumor-induced immune suppression has been recognized as one of the major barriers for cancer immune therapies, including checkpoint inhibitors. Immunosuppressive mechanisms that tumors utilize to silence anti-tumor immune cells are numerous and differ between tumor types.
Combating PDAC Drug Resistance: The Role of Ref-1 Inhibitors in Accelerating Progress in Pancreatic Cancer Research
Pancreatic Ductal Adenocarcinoma (PDAC) remains one of the most lethal solid tumor diagnoses given its limited treatment options and dismal prognosis. Its complex tumor microenvironment (TME), heterogeneity, and high propensity for drug resistance are major obstacles in developing effective therapies. Here, we highlight the critical role of Redox effector 1 (Ref-1) in PDAC progression and drug resistance, focusing on its redox regulation of key transcription factors (TFs) such as STAT3, HIF1α, and NF-κB, which are pivotal for tumor survival, proliferation, and immune evasion.
Indole Family and Neomycin Sulfate: Inductors of Differentiation in C2C12 and RD cell Lines
Rhabdomyosarcoma (RMS) is a highly aggressive tumor primarily affecting the pediatric population, that generally originates from a failure in the embryonic differentiation of myogenic precursor cells. Standard treatment involves surgery, chemotherapy and radiation therapy, with a poor prognosis, especially when it spreads to other parts of the body, highlighting the need for new treatment approaches.
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