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Topic review
Updated time: 26 Jul 2021
Submitted by: Arboix Adrià
Definition: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy; OMIM#125310) is a systemic arteriopathy of non-atherosclerotic and non-amyloid cause. It is a rare disease affecting fewer than 2/1000 individuals, caused by mutations in the NOTCH3 gene. It has autosomal dominant inheritance, although it can also occur due to de novo mutations.
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Topic review
Updated time: 18 May 2021
Submitted by: Gizem Gulfidan
Definition: Pancreatic cancer is one of the most fatal malignancies and the seventh leading cause of cancer-related deaths related to late diagnosis, poor survival rates, and high incidence of metastasis.
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Topic review
Updated time: 31 Aug 2021
Submitted by: Mauro Maccarrone
Definition: Gynaecological cancers can be primary neoplasms, originating either from the reproductive tract or the products of conception, or secondary neoplasms, representative of metastatic disease. For some of these cancers, the exact causes are unknown; however, it is recognised that the precise aetiopathogeneses for most are multifactorial and include exogenous (such as diet) and endogenous factors (such as genetic predisposition), which mutually interact in a complex manner. One factor that has been recognised to be involved in the pathogenesis and progression of gynaecological cancers is the endocannabinoid system (ECS). The ECS consists of endocannabinoids (bioactive lipids), their receptors, and metabolic enzymes responsible for their synthesis and degradation.
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Topic review
Updated time: 23 Aug 2021
Submitted by: Agata Pietrzak
Definition: According to the international societies’ recommendations, the 2-deoxy-2-[18F]fluoro-D-glucose positron emission tomography/computed tomography ([18F]FDG PET/CT) technique should not be used as the method of choice in brain tumour diagnosis. Therefore, the brain region can be omitted during standard [18F]FDG PET/CT scanning. We performed comprehensive literature research and analysed results from 14,222 brain and torso [18F]FDG PET/CT studies collected in 2010–2020 to discuss whether the [18F]FDG PET/CT method may be useful in brain tumours detection.
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Topic review
Updated time: 07 Jul 2021
Submitted by: Kanwal Mahmood
Definition: One-carbon (1-C) metabolism is essential for numerous cancer cell functions, including protein and nucleic acid synthesis and maintaining cellular redox balance, and inhibition of the 1-C pathway has yielded several highly active drugs, such as methotrexate and 5-FU.
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Topic review
Updated time: 23 Aug 2021
Submitted by: Piotr Swiatek
Definition: Compounds containing the 1,2,4-triazole ring in their structure are characterised by multidirectional biological activity.
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Topic review
Updated time: 18 May 2021
Submitted by: Beow Keat Yap
Definition: 14-3-3σ is an acidic homodimer protein with more than one hundred different protein partners associated with oncogenic signaling and cell cycle regulation.
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Topic review
Updated time: 18 May 2021
Submitted by: Hui Min Neoh
Definition: The 16S rRNA gene is highly conserved in all bacteria (and also archaea). Nonetheless, it contains nine hypervariable regions (V1 - V9), where sequences of these regions can be used to identify and discriminate bacterial genus, sometimes until the species level. This makes the gene a useful tool for phylogenetic studies. With the introduction of next-generation sequencing technologies, 16S rRNA next-generation sequencing (16SNGS) has allowed profiling of bacterial communities found in organisms and the environment, and lead to the discovery of many previously unculturable members of the bacteria kingdom.
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Topic review
Updated time: 23 Jun 2021
Submitted by: Ayse T. Kendi
Definition: 177Lu-PSMA (prostate specific membrane antigen) therapy is used for metastatic castration-resistant prostate cancer (mCRPC). Although there are some different approaches regarding the use of 177Lu-PSMA therapy in different countries, this type of therapy is generally safe, with a low toxicity profile. From the oncological point of view, a PSA (prostate specific antigen) decline of ≥50% was seen in 10.6–69% of patients with mCRPC; whereas progression-free survival (PFS) was reported to be 3–13.7 months in different studies. Consequently, 177Lu-PSMA therapy is a promising treatment in patients with mCRPC, with good clinical efficacy, even in heavily pretreated patients with multiple lines of systemic therapy. Currently, there are ongoing clinical trials in the United States, including a phase III multicenter FDA registration trial.
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Topic review
Updated time: 12 Jul 2021
Submitted by: Joy Yoon
Definition: The 1q21.1 CNVs, rare and large chromosomal microduplications and microdeletions, are detected in many patients with NDs. Phenotypes of duplication and deletion appear at the two ends of the spectrum. Microdeletions are predominant in individuals with schizophrenia (SCZ) and microcephaly, whereas microduplications are predominant in individuals with autism spectrum disorder (ASD) and macrocephaly.
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