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Ataxia-pancytopenia Syndrome
Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and acute myeloid leukemia. Signs and symptoms Genetics This syndrome is caused by mutations in the sterile alpha motif domain containing 9-like ( SAMD9L) gene.Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH (2016) Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet 98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009 This gene is located on the long arm of chromosome 7. Diagnosis History Ataxia-pancytopenia syndrome, also known as myelocerebellar dysfunction, was first described by Frederick Pei Li in 1978. The father and all five of his children developed ataxia and hematologic cytopenias Cytopenia is a reduction in the number of mature blood c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Several possible causes exist for these patterns of neurological dysfunction. Dystaxia is a mild degree of ataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. The word is from Greek α- negative prefix+ -τάξις rder= "lack of order". Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. Although a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuropathy
Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland, or organ function depending on which nerves are affected; in other words, neuropathy affecting motor, sensory, or autonomic nerves result in different symptoms. More than one type of nerve may be affected simultaneously. Peripheral neuropathy may be acute (with sudden onset, rapid progress) or chronic (symptoms begin subtly and progress slowly), and may be reversible or permanent. Common causes include systemic diseases (such as diabetes or leprosy), hyperglycemia-induced glycation, vitamin deficiency, medication (e.g., chemotherapy, or commonly prescribed antibiotics including metronidazole and the fluoroquinolone class of antibiotics (such as ciprofloxacin, levofloxacin, moxifloxacin)), traumatic injury, ischemia, radiation therapy, exces ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pancytopenia
Pancytopenia is a medical condition in which there is significant reduction in the number of almost all blood cells (red blood cells, white blood cells, platelets, monocytes, lymphocytes, etc.). If only two parameters from the complete blood count are low, the term bicytopenia can be used. The diagnostic approach is the same as for pancytopenia. Causes Iatrogenic causes of pancytopenia include chemotherapy for malignancies if the drug or drugs used cause bone marrow suppression. Rarely, drugs (antibiotics, blood pressure medication, heart medication) can cause pancytopenia. For example, the antibiotic chloramphenicol can cause pancytopenia in some individuals. Rarely, pancytopenia may have other causes, such as mononucleosis or other viral diseases. Increasingly, HIV is itself a cause of pancytopenia. * Familial hemophagocytic syndrome * Aplastic anemia * Gaucher's disease * Metastatic carcinoma of bone * Multiple Myeloma * Overwhelming infections * Lymphoma * Myelofibrosi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myelodysplastic Syndrome
A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone marrow do not mature, and as a result, do not develop into healthy blood cells. Early on, no symptoms typically are seen. Later, symptoms may include feeling tired, shortness of breath, bleeding disorders, anemia, or frequent infections. Some types may develop into acute myeloid leukemia. Risk factors include previous chemotherapy or radiation therapy, exposure to certain chemicals such as tobacco smoke, pesticides, and benzene, and exposure to heavy metals such as mercury or lead. Problems with blood cell formation result in some combination of low red blood cell, platelet, and white blood cell counts. Some types have an increase in immature blood cells, called blasts, in the bone marrow or blood. The types of MDS are based on specific changes in the blood cells and bone marrow. Treatments may include supportive care, drug therapy, and hematopoietic stem cell transplantati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myeloid Leukemia
Myeloid leukemia is a type of leukemia affecting myeloid tissue. Types include: * Acute myeloid leukemia * Chronic myelogenous leukemia * Acute megakaryoblastic leukemia * Blastic plasmacytoid dendritic cell neoplasm See also * Hematological malignancies * Myeloblast * transient myeloproliferative disease Transient myeloproliferative disease (TMD) occurs in a significant percentage of individuals born with the congenital genetic disorder, Down syndrome. It may occur in individuals who are not diagnosed with the syndrome but have some hematological c ... External links {{Set index article Leukemia lt:Mieloma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sterile Alpha Motif
In molecular biology, the protein domain Sterile alpha motif (or SAM) is a putative protein interaction module present in a wide variety of proteins involved in many biological processes. The SAM domain that spreads over around 70 residues is found in diverse eukaryotic organisms. SAM domains have been shown to homo- and hetero-oligomerise, forming multiple self-association architectures and also binding to various non-SAM domain-containing proteins, nevertheless with a low affinity constant. SAM domains also appear to possess the ability to bind RNA. Smaug, a protein that helps to establish a morphogen gradient in ''Drosophila'' embryos by repressing the translation of nanos (nos) mRNA, binds to the 3' untranslated region (UTR) of nos mRNA via two similar hairpin structures. The 3D crystal structure of the Smaug RNA-binding region shows a cluster of positively charged residues on the Smaug-SAM domain, which could be the RNA-binding surface. This electropositive potential is un ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 7
Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 7. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 7. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases are some of those related to genes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frederick Pei Li
Frederick Pei Li (; May 7, 1940 – June 12, 2015) was a United States, Chinese-American physician. He is most famous for his discovery, together with his colleague Joseph Fraumeni, of Li–Fraumeni syndrome, which is caused by germline mutations of the p53 tumor suppressor gene and genetically predisposes families to high rates of cancer. Li was born in China and raised in the United States, where he worked at the National Cancer Institute as a pioneer in cancer research and later as a professor at Harvard Medical School. He died in 2015 of Alzheimer's disease. Life Li was born in Guangzhou, Canton, China, and raised in New York City, where his parents operated a Chinese restaurant after World War II. His father, Li Hanhun, was a general in World War II (Second Sino-Japanese War) and the chair of Guangdong provincial government during later years of the war. Li also had a brother, Victor Hao Li, professor at Stanford Law School and past president of the East–West Center. He ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytopenia
Cytopenia is a reduction in the number of mature blood cells. It is common in cancer patients being treated with radiation and/or chemotherapy. Types Anemia – a reduction of the red blood cells in the body. Leukopenia – a deficiency of white blood cells, or leukocytes Neutropenia – a type of leukopenia, with a specific deficiency in neutrophils Thrombocytopenia – a deficiency of platelets Pancytopenia – when all three types of blood cells; red blood cells, white blood cells, and platelets, are all deficient. This is a life-threatening disorder that is a characteristic of aplastic anemia. There are also two general types of cytopenia: autoimmune and refractory. Autoimmune cytopenia – caused by an autoimmune disease when your body produces antibodies to destroy the healthy blood cells. Refractory cytopenia – caused by bone marrow not producing healthy blood cells, and can be a result of cancer. Symptoms and signs The symptoms of cytopenia vary depending on wh ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Cerebellum
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
