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Topic Review
Ring Chromosome 20 Syndrome
Ring chromosome 20 syndrome is a condition that affects the normal development and function of the brain.
  • 1.1K
  • 24 Dec 2020
Topic Review
Omenn Syndrome
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency).
  • 1.1K
  • 24 Dec 2020
Topic Review
ABCG2 Gene
ATP binding cassette subfamily G member 2 (Junior blood group)
  • 1.1K
  • 24 Dec 2020
Topic Review
FG Syndrome
FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
  • 1.1K
  • 25 Dec 2020
Topic Review
The Major Types of Non-Coding RNAs
Non-coding RNAs (ncRNAs) encompass all RNAs that are not translated into proteins. They are classified by features such as length and structure, and include microRNAs (miRs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs).
  • 1.1K
  • 01 Feb 2023
Topic Review
Homocystinuria
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.
  • 1.1K
  • 23 Dec 2020
Topic Review
Gout
Gout is a type of arthritis, which is a group of related disorders caused by episodes of abnormal inflammation in the joints. People with gout have high levels of a substance called urate in the blood (hyperuricemia).
  • 1.1K
  • 23 Dec 2020
Topic Review
KBG Syndrome
KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder.
  • 1.1K
  • 23 Dec 2020
Topic Review
CDKL5 Gene
cyclin dependent kinase like 5
  • 1.1K
  • 24 Dec 2020
Topic Review
POIKTMP
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.
  • 1.1K
  • 04 Jan 2021
Topic Review
MEFV Gene
MEFV, pyrin innate immunity regulator
  • 1.1K
  • 22 Dec 2020
Topic Review
Mutations and Health
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.  By changing a gene's instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition.
  • 1.1K
  • 24 Dec 2020
Topic Review
Mind-Body Intervention and Diabetes
Mind–body intervention (MBI) refers to interventions like meditation, yoga, and qigong, which deal with both physical and mental well-being. MBI not only induces psychological changes, such as alleviation of depression, anxiety, and stress, but also physiological changes like parasympathetic activation, lower cortisol secretion, reduced inflammation, and aging rate delay, which are all risk factors for T2D. Notably, MBI has been reported to reduce blood glucose in patients with T2D.
  • 1.1K
  • 11 Mar 2021
Topic Review
Matrisomal Gene Panel for Head and Neck Cancer
Squamous cell carcinoma of the head and neck (SCCHN) is common worldwide and related to several risk factors including smoking, alcohol consumption, poor dentition and human papillomavirus (HPV) infection. Different etiological factors may influence the tumor microenvironment and play a role in dictating response to therapeutics. Here, we sought to investigate whether an early-stage SCCHN-specific prognostic matrisome-derived gene signature could be identified for HPV-negative SCCHN patients (n = 168), by applying a bioinformatics pipeline to the publicly available SCCHN-TCGA dataset. We identified six matrisome-derived genes with high association with prognostic outcomes in SCCHN. A six-gene risk score, the SCCHN TMI (SCCHN-tumor matrisome index: composed of MASP1, EGFL6, SFRP5, SPP1, MMP8 and P4HA1) was constructed and used to stratify patients into risk groups. Using machine learning-based deconvolution methods, we found that the risk groups were characterized by a differing abundance of infiltrating immune cells. 
  • 1.1K
  • 23 Nov 2021
Topic Review
Gene Mutations in Systemic Mastocytosis
Systemic mastocytosis (SM) is a rare hematologic disease characterized by an abnormal expansion and accumulation of pathological mast cells (MCs) in skin and/or other several extracutaneous tissues such as bone marrow (BM) and the gastro-intestinal tract. Currently, SM is divided into five different diagnostic subtypes according to the World Health Organization (WHO) 2016 classification. These include indolent SM (ISM), smouldering SM (SSM), aggressive SM (ASM), SM with associated haematological neoplasms (SM-AHN) and MC leukaemia (MCL). Additionally, the inclusion of two new subtypes of SM into the classification of the disease is currently under consideration: a variant of ISM known as BM mastocytosis (BMM), which is characterized by a low BM MC burden in the absence of skin lesions, and a very rare (<5%) variant of mastocytosis, which shows tumour mast cells (MCs) with a well-differentiated morphology together with a CD25− CD2− immunophenotype and unique clinical, biological and molecular features, termed well-differentiated SM (WDSM). From a prognostic point of view, all these diagnostic subtypes of SM can be grouped into (i) non-advanced forms of SM (Non-AdvSM), which include BMM, ISM and SSM, typically characterized by a more stable and indolent course of the disease and a life expectancy similar or close to that of a sex- and age-matched population; and (ii) advanced SM (AdvSM) including ASM, SM-AHN and MCL, which typically display an adverse prognosis associated with a significantly shortened life expectancy requiring cytoreductive therapy. Despite this, some ISM patients (<5%) can eventually evolve to SSM and AdvSM. Conversely, a small proportion of AdvSM patients may also show a relatively stable disease course over years or even decades.
  • 1.1K
  • 27 May 2022
Topic Review
Cold-induced Sweating Syndrome
Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body.
  • 1.1K
  • 24 Dec 2020
Topic Review
SLC5A5 Gene
solute carrier family 5 member 5
  • 1.1K
  • 24 Dec 2020
Topic Review
FLG Gene
Filaggrin
  • 1.1K
  • 25 Dec 2020
Topic Review
APOE Gene
Apolipoprotein E
  • 1.1K
  • 04 Jan 2021
Topic Review
Knee Osteoarthritis
Being the most common musculoskeletal progressive condition, osteoarthritis is an interesting target for research. It is estimated that the prevalence of knee osteoarthritis (OA) among adults 60 years of age or older is approximately 10% in men and 13% in women, making knee OA one of the leading causes of disability in elderly population. Today, we know that osteoarthritis is not a disease characterized by loss of cartilage due to mechanical loading only, but a condition that affects all of the tissues in the joint, causing detectable changes in tissue architecture, its metabolism and function. All of these changes are mediated by a complex and not yet fully researched interplay of proinflammatory and anti-inflammatory cytokines, chemokines, growth factors and adipokines, all of which can be measured in the serum, synovium and histological samples, potentially serving as biomarkers of disease stage and progression. Another key aspect of disease progression is the epigenome that regulates all the genetic expression through DNA methylation, histone modifications, and mRNA interference. A lot of work has been put into developing non-surgical treatment options to slow down the natural course of osteoarthritis to postpone, or maybe even replace extensive surgeries such as total knee arthroplasty. At the moment, biological treatments such as platelet-rich plasma, bone marrow mesenchymal stem cells and autologous microfragmented adipose tissue containing stromal vascular fraction are ordinarily used. Furthermore, the latter two mentioned cell-based treatment options seem to be the only methods so far that increase the quality of cartilage in osteoarthritis patients. Yet, in the future, gene therapy could potentially become an option for orthopedic patients.
  • 1.1K
  • 26 Oct 2020
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