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Topic Review
Biography
Topic Review
Autosomal Dominant Non-Syndromic Hearing Loss
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history. To date, more than 50 genes and 80 loci have been identified for autosomal dominant non-syndromic HL. DFNA22 (MYO6 gene), DFNA8/12 (TECTA gene), DFNA20/26 (ACTG1 gene), DFNA6/14/38 (WFS1 gene), DFNA15 (POU4F3 gene), DFNA2A (KCNQ4 gene), and DFNA10 (EYA4 gene) are some of the most common forms of autosomal dominant non-syndromic HL. The characteristics of autosomal dominant non-syndromic HL are heterogenous.
310
29 Jun 2023
Topic Review
Whole Genome Amplification and the appropriate DNA polymerases
In the same way that specialized DNA polymerases (DNAPs) replicate cellular and viral genomes, only a handful of dedicated proteins from various natural origins as well as engineered versions are appropriate for competent exponential amplification of whole genomes and metagenomes (WGA). Different applications have led to the development of diverse protocols, based on various DNAPs. Isothermal whole genomes and metagenomes (WGA) is currently widely used due to the high performance of Φ29 DNA polymerase, but polymerase chain reaction (PCR)-based methods are also available and can provide competent amplification of certain samples. Replication fidelity and processivity must be considered when selecting a suitable enzyme for WGA. However, other properties, such as thermostability, capacity to couple replication, and double helix unwinding, or the ability to maintain DNA replication opposite to damaged bases, are also very relevant for some applications.
321
29 Jun 2023
Topic Review
Airway Inflammation in Asthma Pathogenesis
Asthma is a heterogeneous disease characterized by chronic airway inflammation. Group 2 innate lymphoid cells (ILC2) play an important role in the pathogenesis of asthma. ILC2s lack antigen-specific receptors and respond to epithelial-derived cytokines, leading to the induction of airway eosinophilic inflammation in an antigen-independent manner. Additionally, ILC2s might be involved in the mechanism of steroid resistance. Numerous studies in both mice and humans have shown that ILC2s induce airway inflammation through inflammatory signals, including cytokines and other mediators derived from immune or non-immune cells.
400
29 Jun 2023
Topic Review
Pathophysiology of Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited kidney disease which leads to progressive kidney failure. About 5–10% of patients requiring renal replacement therapy are affected by ADPKD. Cardiovascular diseases are the main causes of morbidity and mortality in these patients with ADPKD; arterial hypertension (AH) is the first symptom with a very early onset. Anyway, some other cardiovascular abnormalities have been reported in ADPKD regardless of the presence of AH.
440
29 Jun 2023
Topic Review
Factors Contributing to Atopic Dermatitis Development
Atopic dermatitis (AD) or atopic eczema is an increasingly manifested inflammatory skin disorder of complex etiology which is modulated by both extrinsic and intrinsic factors. Immune dysregulation, barrier dysfunction, hormonal fluctuations, and skin microbiome dysbiosis are important factors contributing to AD development, and their in-depth understanding is crucial not only for AD treatment but also for similar inflammatory disorders.
629
29 Jun 2023
Topic Review
Biomarkers of Refractoriness to Chemoimmunotherapy in CLL
Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. Despite its indolent clinical course, therapy refractoriness and disease progression still represent an unmet clinical need. Before the advent of pathway inhibitors, chemoimmunotherapy (CIT) was the commonest option for CLL treatment and is still widely used in areas with limited access to pathway inhibitors.
349
29 Jun 2023
Topic Review
Classification of Lymphoblastic Leukemias and Lymphomas
The diagnosis and treatment of lymphoid neoplasms have undergone a progressively positive change in the past, with accelerated progress in the previous decade due to the advent of genomics in cancer diagnosis. Significantly, there has been an increasing emphasis on integrating molecular genetics with clinical, morphologic, immunophenotypic, and cytogenetic evaluation for diagnosis.
314
29 Jun 2023
Topic Review
Endoscopic Ultrasound-Guided Biliary Drainage
Endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic biliary drainage (PTBD) are currently first- and second-line therapeutic options, respectively, for the relief of biliary obstruction. However, endoscopic ultrasound-guided biliary drainage (EUS-BD) has become an established alternative therapy for biliary obstruction. There are multiple different techniques for EUS-BD, which can be distinguished based on the access point within the biliary tree (intrahepatic versus extrahepatic) and the location of stent placement (transenteric versus transpapillary). The clinical and technical success rates of biliary drainage for EUS-BD are similar to both ERCP and PTBD, and complication rates are favorable for EUS-BD relative to PTBD.
295
28 Jun 2023
Topic Review
Neuro-Inflammaging and Psychopatological Distress
Inflammaging is a low degree of chronic and systemic tissue inflammation associated with aging, and is intimately linked to pro-inflammatory mediators. These substances are involved in the pathogenesis of chronic inflammatory diseases and related psychopathological symptoms. Aging and inflammation have been defined in their interplay since the 1991 New York Academy of Sciences conference by a group of researchers. It ihas been suggested that biological, chemical, and physics damage led to a chronic inflammatory process. The link between the molecular and cellular balance capable of permitting a physiological healthy aging or a cognitive impairment is still unclear. The innate immune system plays a crucial role in the inflammatory processes, usually reduced at advanced ages. In the elderly, senescent microglia augment the production of proinflammatory mediators with reduced chemotaxis and phagocytosis capacities, particularly of amyloid-β fibrils. The raised systemic inflammatory state and peripheral immunosenescence interfere with neuronal immune cell activity and reactivity.
328
28 Jun 2023
Topic Review
Dietary Advanced Glycation End Products and Insulin Resistance
Insulin resistance (IR) is commonly observed during aging and is at the root of many of the chronic nontransmissible diseases experienced as people grow older. Many factors may play a role in causing IR, but diet is undoubtedly an important one. Whether it is total caloric intake or specific components of the diet, the factors responsible remain to be confirmed. Of the many dietary influences that may play a role in aging-related decreased insulin sensitivity, advanced glycation end products (AGEs) appear particularly important.
322
28 Jun 2023
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