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Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. CDA may be transmitted by both parents autosomal recessively or dominance (genetics), dominantly. Types Congenital dyserythropoietic anemia has four different subtypes, Congenital dyserythropoietic anemia type I, CDA type I, Congenital dyserythropoietic anemia type II, CDA type II, Congenital dyserythropoietic anemia type III, CDA type III, and Congenital dyserythropoietic anemia type IV, CDA type IV. CDA type II (CDA II) is the most frequent type of congenital dyserythropoietic anemias. Signs and symptoms The symptoms and signs of congenital dyserythropoietic anemia are consistent with: * Tiredness (fatigue) * Weakness * Pale skin Diagnosis The diagnosis of conge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Disorder
Hematologic diseases are disorders which primarily affect the blood and blood-forming organs. Hematologic diseases include rare genetic disorders, anemia, HIV, sickle cell disease and complications from chemotherapy or transfusions. Myeloid * Hemoglobinopathies (congenital abnormality of the hemoglobin molecule or of the rate of hemoglobin synthesis) ** Sickle cell disease ** Thalassemia ** Methemoglobinemia * Anemias (lack of red blood cells or hemoglobin) ** Iron-deficiency anemia ** Megaloblastic anemia *** Vitamin B12 deficiency **** Pernicious anemia *** Folate deficiency ** Hemolytic anemias (destruction of red blood cells) *** Genetic disorders of RBC membrane **** Hereditary spherocytosis **** Hereditary elliptocytosis **** Congenital dyserythropoietic anemia *** Genetic disorders of RBC metabolism **** Glucose-6-phosphate dehydrogenase deficiency (G6PD) **** Pyruvate kinase deficiency *** Immune mediated hemolytic anemia ( direct Coombs test is positive) **** Au ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromatin
Chromatin is a complex of DNA and protein found in eukaryote, eukaryotic cells. The primary function is to package long DNA molecules into more compact, denser structures. This prevents the strands from becoming tangled and also plays important roles in reinforcing the DNA during cell division, preventing DNA repair#DNA damage, DNA damage, and regulating gene expression and DNA replication. During mitosis and meiosis, chromatin facilitates proper segregation of the chromosomes in anaphase; the characteristic shapes of chromosomes visible during this stage are the result of DNA being coiled into highly condensed chromatin. The primary protein components of chromatin are histones. An octamer of two sets of four histone cores (Histone H2A, Histone H2B, Histone H3, and Histone H4) bind to DNA and function as "anchors" around which the strands are wound.Maeshima, K., Ide, S., & Babokhov, M. (2019). Dynamic chromatin organization without the 30 nm fiber. ''Current opinion in cell biolog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coding Region
The coding region of a gene, also known as the coding DNA sequence (CDS), is the portion of a gene's DNA or RNA that codes for a protein. Studying the length, composition, regulation, splicing, structures, and functions of coding regions compared to non-coding regions over different species and time periods can provide a significant amount of important information regarding gene organization and evolution of prokaryotes and eukaryotes. This can further assist in mapping the human genome and developing gene therapy. Definition Although this term is also sometimes used interchangeably with exon, it is not the exact same thing: the exon can be composed of the coding region as well as the 3' and 5' untranslated regions of the RNA, and so therefore, an exon would be partially made up of coding region. The 3' and 5' untranslated regions of the RNA, which do not code for protein, are termed non-coding regions and are not discussed on this page. There is often confusion between coding ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Weakness
Weakness is a symptom of many different medical conditions. The causes are many and can be divided into conditions that have true or perceived muscle weakness. True muscle weakness is a primary symptom of a variety of skeletal muscle diseases, including muscular dystrophy and inflammatory myopathy. It occurs in neuromuscular junction disorders, such as myasthenia gravis. Pathophysiology Muscle cells work by detecting a flow of electrical impulses from the brain, which signals them to contract through the release of calcium by the sarcoplasmic reticulum. Fatigue (reduced ability to generate force) may occur due to the nerve, or within the muscle cells themselves. New research from scientists at Columbia University suggests that muscle fatigue is caused by calcium leaking out of the muscle cell. This makes less calcium available for the muscle cell. In addition, the Columbia researchers propose that an enzyme activated by this released calcium eats away at muscle fibers. Su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tiredness
Fatigue is a state of tiredness (which is not sleepiness), exhaustion or loss of energy. It is a symptom of any of various diseases; it is not a disease in itself. Fatigue (in the medical sense) is sometimes associated with medical conditions including autoimmune disease, organ failure, chronic pain conditions, mood disorders, heart disease, infectious diseases, and post-infectious-disease states. However, fatigue is complex and in up to a third of primary care cases no medical or psychiatric diagnosis is found. Fatigue (in the general usage sense of normal tiredness) often follows prolonged physical or mental activity. Physical fatigue results from muscle fatigue brought about by intense physical activity. Mental fatigue results from prolonged periods of cognitive activity which impairs cognitive ability, can manifest as sleepiness, lethargy, or directed attention fatigue, and can also impair physical performance. Definition Fatigue in a medical context is used to cover ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KLF1
Krueppel-like factor 1 is a protein that in humans is encoded by the KLF1 gene. The gene for KLF1 is on the human chromosome 19 and on mouse chromosome 8. Krueppel-like factor 1 is a transcription factor that is necessary for the proper maturation of erythroid (red blood) cells. Structure The molecule has two domains; the transactivation domain and the chromatin-remodeling domain. The carboxyl (C) terminal is composed of three C2H2 zinc fingers that binds to DNA, and the amino (N) terminus is proline rich and acidic. Function Studies in mice first demonstrated the critical function of KLF1 in hematopoietic development. KLF1 deficient (knockout) mouse embryos exhibit a lethal anemic phenotype, fail to promote the transcription of adult β-globin, and die by embryonic day 15. Over-expression of KLF1 results in a reduction of the number of circulating platelets and hastens the onset of the β-globin gene. KLF1 coordinates the regulation of six cellular pathways that are all e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KIF23
KIF may refer to: * Koyamada International Foundation (Shin Koyamada#Koyamada International Foundation , KIF), an international nonprofit organization * KIF Kolding, a handball club in Denmark * Kif Kroker, a character in the TV show ''Futurama'' * Kingfisher Lake Airport, Ontario, Canada * Knowledge Interchange Format, in computing * Københavns Idræts Forening, athletics club in Denmark * an alien race in the Chanur novels by C. J. Cherryh * Kinesin superfamily protein * Shogi notation#KIF, KIF, a file format used for saving full games of shogi See also * Kief {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinopathy
Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy often refers to retinal vascular disease, or damage to the retina caused by abnormal blood flow. Age-related macular degeneration is technically included under the umbrella term retinopathy but is often discussed as a separate entity. Retinopathy, or retinal vascular disease, can be broadly categorized into proliferative and non-proliferative types. Frequently, retinopathy is an ocular manifestation of systemic disease as seen in diabetes or hypertension. Diabetes is the most common cause of retinopathy in the U.S. as of 2008. Diabetic retinopathy is the leading cause of blindness in working-aged people. It accounts for about 5% of blindness worldwide and is designated a priority eye disease by the World Health Organization. Signs and symptoms Many people often do not have symptoms until very late in their disease course. Patients often become symptomatic when there is irreversibl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SEC23B
The coat protein complex II, or COPII, is a group of proteins that facilitate the formation of vesicles to transport proteins from the endoplasmic reticulum to the Golgi apparatus or endoplasmic-reticulum–Golgi intermediate compartment. This process is termed anterograde transport, in contrast to the retrograde transport associated with the COPI complex. COPII is assembled in two parts: first an inner layer of Sar1, Sec23, and Sec24 forms; then the inner coat is surrounded by an outer lattice of Sec13 and Sec31. Function The COPII coat is responsible for the formation of vesicles from the endoplasmic reticulum (ER). These vesicles transport cargo proteins to the Golgi apparatus (in yeast) or the endoplasmic-reticulum-Golgi intermediate compartment (ERGIC, in mammals). Coat assembly is initiated when the cytosolic Ras GTPase Sar1 is activated by its guanine nucleotide exchange factor Sec12. Activated Sar1-GTP inserts itself into the ER membrane, binding preferentially to area ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polychromatic
Polychrome is the "practice of decorating architectural elements, sculpture, etc., in a variety of colors." The term is used to refer to certain styles of architecture, pottery, or sculpture in multiple colors. When looking at artworks and architecture from Ancient history, antiquity and the European Middle Ages, people tend to believe that they were monochrome. In reality, the pre-Renaissance past was full of colour, and Greco-Roman sculptures and Gothic architecture, Gothic cathedrals, that are now white, beige, or grey, were initially painted in a variety of colours. As André Malraux stated: "Athens was never white but her statues, bereft of color, have conditioned the artistic sensibilities of Europe [...] the whole past has reached us colorless." Polychrome was and is a practice not limited only to the Western world. Non-Western artworks, like Chinese architecture, Chinese temples, Oceanian art, Oceanian Uli figures, or Maya ceramics, Maya ceramic vases, were also decora ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Binucleate
Binucleated cells are cells that contain two nuclei. This type of cell is most commonly found in cancer cells and may arise from a variety of causes. Binucleation can be easily visualized through staining and microscopy. In general, binucleation has negative effects on cell viability and subsequent mitosis. They also occur physiologically in hepatocytes, chondrocytes and in fungi (dikaryon). Causes * Cleavage furrow regression: Cells divide and almost complete division but then the cleavage furrow begins to regress and the cells merge. This is thought to be caused by nondisjunction in chromosomes but the mechanism by which it occurs is not well understood. * Failed cytokinesis: The cell can fail to form a cleavage furrow, leading to both nuclei remaining in one cell. * Multipolar spindles: Cells contain three or more centrioles, resulting in multiple poles. This leads to the cells pulling chromosomes in many directions that end in multiple nuclei found in one cell. * Mer ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatomegaly
Hepatomegaly is enlargement of the liver. It is a non-specific sign (medicine), medical sign, having many causes, which can broadly be broken down into infection, hepatic tumours, and metabolic disorder. Often, hepatomegaly presents as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice. Signs and symptoms The patient may experience many symptoms, including weight loss, poor appetite, and lethargy; jaundice and bruising may also be present. Causes Among the causes of hepatomegaly are the following: Infective Mechanism The mechanism of hepatomegaly consists of Blood vessel, vascular swelling, inflammation (infectious in origin), and deposition of (1) non-hepatic cells or (2) increased cell contents (such as that due to iron in hemochromatosis or hemosiderosis and fat in fatty liver disease). Diagnosis Suspicion of hepatomegaly indicates a thorough medical history and Abdominal examination, physical examination, wherein the latter typicall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
