Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
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
McCune-Albright Syndrome
McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
  • 1.1K
  • 23 Dec 2020
Topic Review
Canavan Disease
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.
  • 1.1K
  • 24 Dec 2020
Topic Review
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 1.1K
  • 04 Jan 2021
Topic Review
Apert Syndrome
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
  • 1.1K
  • 24 Dec 2020
Topic Review
MYOC and Glaucoma
MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG).
  • 1.1K
  • 02 Feb 2021
Topic Review
Lynch Syndrome
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer.
  • 1.1K
  • 04 Jan 2021
Topic Review
Human Malformation Syndromes and SHH Pathway
Human hereditary malformation syndromes are caused by mutations in the genes of the signal transduction molecules involved in fetal development. Among them, the Sonic hedgehog (SHH) signaling pathway is the most important, and many syndromes result from its disruption. The output of the SHH pathway is shown as GLI activity, which is generated by SHH in a concentration-dependent manner, i.e., the sum of activating form of GLI (GLIA) and repressive form of GLI (GLIR). Which gene is mutated and whether the mutation is loss-of-function or gain-of-function determine in which concentration range of SHH the imbalance occurs. In human malformation syndromes, too much or too little GLI activity produces symmetric phenotypes affecting brain size, craniofacial (midface) dysmorphism, and orientation of polydactyly with respect to the axis of the limb. 
  • 1.1K
  • 17 Dec 2021
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
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
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
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
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
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
Epigenetic Regulation of Epidermal Differentiation
Epidermal differentiation relies on a highly coordinated program of gene expression. Epigenetic mechanisms, which commonly include DNA methylation, covalent histone modifications, and microRNA (miRNA) activity, modulate various stages of gene expression by altering chromatin accessibility and mRNA stability. Their involvement in epidermal differentiation is a matter ofintensive studies.
  • 1.1K
  • 18 Jan 2021
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
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
Chromosome 1
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
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
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback