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Topic Review
Ellis-van Creveld Syndrome
Ellis-van Creveld syndrome is a rare, recessive genetic disorder. The typical signs in affected patients are dwarfism, polydactyly, dysmorphic faces and dental anomalies. 
  • 672
  • 20 Feb 2021
Topic Review
Aetiology and Pathophysiology of Parkinson’s and Alzheimer’s Disease
Neurodegeneration is hallmarked by the progressive loss of dopaminergic neurons and/or a significant increase in protein aggregates in the brain. Neurodegenerative diseases are a leading cause of death worldwide with over 15 million people currently suffering from either Parkinson’s disease (PD) or Alzheimer’s disease (AD). PD is often characterized by both motor and non-motor symptoms, including muscle rigidity, tremors and bradykinesia, with AD displaying symptoms of confusion and dementia.
  • 673
  • 22 Mar 2023
Topic Review
Tumor Heterogeneity in ESCC
Esophageal squamous cell carcinoma (ESCC) is a common and aggressive malignancy, with hitherto dismal clinical outcome. Genomic analyses of patient samples reveal a complex heterogeneous landscape for ESCC, which presents in both intertumor and intratumor forms, manifests at both genomic and epigenomic levels, and contributes significantly to tumor evolution, drug resistance, and metastasis.
  • 674
  • 12 Oct 2021
Topic Review
Proteomics, Personalized Medicine and Cancer
Cancer, a major public health issue worldwide, is the second most common cause of death. Initiatives such as the Human Genome Project (HGP) and Human Proteome Project (HPP) have greatly advanced the understanding of human health and disease, including cancer, and are supporting the current trend towards personalized/precision medicine.
  • 671
  • 01 Jun 2021
Topic Review
Lymphocyte Counts and Multiple Sclerosis Therapeutics
As more treatment options emerge that have a significant impact on the peripheral immune system, the evaluation of lymphocyte count, and that of specific lymphocyte subsets, become more important in the treatment selection and management of patients with multiple sclerosis (MS).
  • 671
  • 24 Nov 2021
Topic Review Peer Reviewed
Photobiomodulation for Taste Alteration
Photobiomodulation (PBM) therapy employs light at red and near-infrared wavelengths to modulate biological activity. The therapeutic effect of PBM for the treatment or management of several diseases and injuries has gained significant popularity among researchers and clinicians, especially for the management of oral complications of cancer therapy. This entry focuses on the current evidence on the use of PBM for the management of a frequent oral complication due to cancer therapy—taste alteration.
  • 633
  • 13 Apr 2022
Topic Review
Child and Adolescent Obesity
Child and adolescent obesity constitute one of the greatest contemporary public health menaces. The enduring disproportion between calorie intake and energy consumption, determined by a complex interaction of genetic, epigenetic, and environmental factors, finally leads to the development of overweight and obesity. Child and adolescent overweight/obesity promotes smoldering systemic inflammation (“para-inflammation”) and increases the likelihood of later metabolic and cardiovascular complications, including metabolic syndrome and its components, which progressively deteriorate during adulthood. Exosomes are endosome-derived extracellular vesicles that are secreted by a variety of cells, are naturally taken-up by target cells, and may be involved in many physiological and pathological processes. Over the last decade, intensive research has been conducted regarding the special role of exosomes and the non-coding (nc) RNAs they contain (primarily micro (mi) RNAs, long (l) non-coding RNAs, messenger (m) RNAs and other molecules) in inter-cellular communications. Through their action as communication mediators, exosomes may contribute to the pathogenesis of obesity and associated disorders. There is increasing evidence that exosomal miRNAs and lncRNAs are involved in pivotal processes of adipocyte biology and that, possibly, play important roles in gene regulation linked to human obesity. 
  • 671
  • 14 Apr 2021
Topic Review
Epicardial Adipose Tissue
The epicardial adipose tissue (EAT) is a metabolically active organ recently associated with heart failure and atrial fibrillation and classified as an independent risk factor for subclinical coronary artery disease. Some evidence suggests as the assessment of EAT using coronary artery calcium (CAC) might represent an additional tool to quantify patients’ cardiovascular risk.
  • 672
  • 28 Dec 2022
Topic Review
Aripiprazole Lauroxil
Aripiprazole lauroxil is a prodrug of aripiprazole and is administered as an intramuscular injection. Once administered, aripiprazole lauroxil is first converted to N-hydroxymethyl aripiprazole by enzyme-mediated hydrolysis and is hydrolyzed again to aripiprazole. Aripiprazole was originally reported to be a partial agonist at D2and 5HT1Areceptors, with a combination of antagonistic activity at 5HT2Areceptors.
  • 671
  • 18 Jul 2021
Topic Review
BRAF V600K-Mutant Cutaneous Melanoma
BRAF is a serine/threonine protein kinase that, activating MAPK and ERK signalling, is involved in cell proliferation. About 50% of melanomas harbour a BRAF mutation. Of these 50%, 10% have a V600K mutation. Recent findings have underlined how melanoma V600K seems to be less dependent on the ERK/MAPK pathway, with a higher expression of PI3KB and a strong inhibition of multiple antiapoptotic pathways. Both target therapy with BRAF inhibitors + MEK inhibitors and immunotherapy with anti-checkpoint blockades are effective in melanoma V600K, although no sufficient evidence can currently support a formal recommendation for first line treatment choice in IIIC unresectable/IV stage patients.
  • 672
  • 15 Feb 2022
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