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Topic Review
Polycythemia Vera
Polycythemia vera is a condition characterized by an increased number of red blood cells in the bloodstream. Affected individuals may also have excess white blood cells and blood clotting cells called platelets. These extra cells and platelets cause the blood to be thicker than normal. As a result, abnormal blood clots are more likely to form and block the flow of blood through arteries and veins. Individuals with polycythemia vera have an increased risk of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep veins of the arms or legs. If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening clot known as a pulmonary embolism (PE). Affected individuals also have an increased risk of heart attack and stroke caused by blood clots in the heart and brain.
  • 1.0K
  • 24 Dec 2020
Topic Review
KRAS Mutation in PDAC
The vast majority of patients with pancreatic ductal adenocarcinomas harbor KRAS mutations in their tumors. Functionally, mutated KRAS is not only dedicated to tumor cell proliferation, survival and invasiveness, but also causing the immunosuppression in this cancer. 
  • 1.0K
  • 23 Jun 2021
Topic Review
Mutational Signatures in Gastric Cancer
Gastric cancer is characterised by high inter- and intratumour heterogeneity. The majority of patients are older than 65 years and the global burden of this disease is increasing due to the aging of the population. The disease is usually diagnosed at advanced stages, which is a consequence of nonspecific symptoms. A new field of mutational signatures has emerged in the past decade with advances in the genome sequencing technology. These distinct mutational patterns in the genome, caused by exogenous and endogenous mutational processes, can be associated with tumour aetiology and disease progression, and could provide novel perception on the treatment possibilities. 
  • 1.0K
  • 06 Nov 2023
Topic Review
Laron Syndrome
Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth.
  • 1.0K
  • 23 Dec 2020
Topic Review
COMT Gene
catechol-O-methyltransferase
  • 1.0K
  • 24 Dec 2020
Topic Review
MicroRNAs in Thyroid Cancers Prognosis
Current prognostication systems have inherent limitations associated with the prediction of recurrence risk from thyroid cancer (TC). Recent studies identified associations between specific levels of microRNAs and aggressive TC clinicopathological features.
  • 1.0K
  • 26 Oct 2020
Topic Review
Tibial Muscular Dystrophy
Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg.
  • 1.0K
  • 23 Dec 2020
Topic Review
Noonan Syndrome
Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
  • 1.0K
  • 24 Dec 2020
Topic Review
OSMR Gene
oncostatin M receptor
  • 1.0K
  • 24 Dec 2020
Topic Review
9q22.3 Microdeletion
9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.
  • 1.0K
  • 23 Dec 2020
Topic Review
Beare-Stevenson Cutis Gyrata Syndrome
Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • 1.0K
  • 24 Dec 2020
Topic Review
SDHA Gene
succinate dehydrogenase complex flavoprotein subunit A
  • 1.0K
  • 19 Apr 2021
Topic Review
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males.
  • 1.0K
  • 24 Dec 2020
Topic Review
ABCC2 Gene
ATP binding cassette subfamily C member 2
  • 1.0K
  • 24 Dec 2020
Topic Review
CFEOM
Congenital fibrosis of the extraocular muscles (CFEOM) is a disorder of the nervous system that affects use of the muscles that surround the eyes (extraocular muscles). These muscles control eye movement and the direction of the eyes (for example, looking straight ahead). CFEOM impairs control of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, most people with CFEOM have droopy eyelids (ptosis), which further limits their vision.
  • 1.0K
  • 04 Jan 2021
Topic Review
Turner Syndrome
Turner syndrome is a chromosomal condition that affects development in females.
  • 1.0K
  • 23 Dec 2020
Topic Review
Silver Syndrome
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias.
  • 1.0K
  • 25 Dec 2020
Topic Review
Beta Thalassemia
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.
  • 1.0K
  • 24 Dec 2020
Topic Review
YWHAE Gene
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
  • 1.0K
  • 24 Dec 2020
Topic Review
Cytogenetically Normal Acute Myeloid Leukemia
Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
  • 1.0K
  • 24 Dec 2020
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