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Hypomyelinogenesis
Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that affects the brain's white matter and is characterized by congenital cataract (or cataracts that begin in the first two months of life), psychomotor retardation, psychomotor development delays, and moderate intellectual disabilities. It is a type of leukoencephalopathy. Signs and symptoms Children with this condition are born with congenital cataract (or they have an early-onset cataract which presents before two months of life). These cataracts are caused by hypomyelination, which is the body's inability of producing nerve fiber myelin. Development is normal for kids with this condition until the age of 1 year of life, when development and learning start slowing down, although they can learn how to walk. Other symptoms such as intellectual disabilities, cognitive impairment, epilepsy, ataxia, spasticity, Hypotonia, trunk hypotonia, hyperreflexia, Tremor, tremors, and Dysarthria ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peripheral Neuropathy
Peripheral neuropathy, often shortened to neuropathy, refers to damage or disease affecting the nerves. Damage to nerves may impair sensation, movement, gland function, and/or organ function depending on which nerve fibers are affected. Neuropathies affecting motor, sensory, or autonomic nerve fibers result in different symptoms. More than one type of fiber 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, excessive alcohol consumption, immune system disease, celiac disease, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Italy
Italy, officially the Italian Republic, is a country in Southern Europe, Southern and Western Europe, Western Europe. It consists of Italian Peninsula, a peninsula that extends into the Mediterranean Sea, with the Alps on its northern land border, as well as List of islands of Italy, nearly 800 islands, notably Sicily and Sardinia. Italy shares land borders with France to the west; Switzerland and Austria to the north; Slovenia to the east; and the two enclaves of Vatican City and San Marino. It is the List of European countries by area, tenth-largest country in Europe by area, covering , and the third-most populous member state of the European Union, with nearly 59 million inhabitants. Italy's capital and List of cities in Italy, largest city is Rome; other major cities include Milan, Naples, Turin, Palermo, Bologna, Florence, Genoa, and Venice. The history of Italy goes back to numerous List of ancient peoples of Italy, Italic peoples—notably including the ancient Romans, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turkey
Turkey, officially the Republic of Türkiye, is a country mainly located in Anatolia in West Asia, with a relatively small part called East Thrace in Southeast Europe. It borders the Black Sea to the north; Georgia (country), Georgia, Armenia, Azerbaijan, and Iran to the east; Iraq, Syria, and the Mediterranean Sea to the south; and the Aegean Sea, Greece, and Bulgaria to the west. Turkey is home to over 85 million people; most are ethnic Turkish people, Turks, while ethnic Kurds in Turkey, Kurds are the Minorities in Turkey, largest ethnic minority. Officially Secularism in Turkey, a secular state, Turkey has Islam in Turkey, a Muslim-majority population. Ankara is Turkey's capital and second-largest city. Istanbul is its largest city and economic center. Other major cities include İzmir, Bursa, and Antalya. First inhabited by modern humans during the Late Paleolithic, present-day Turkey was home to List of ancient peoples of Anatolia, various ancient peoples. The Hattians ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contact Lenses
Contact lenses, or simply contacts, are thin lens (optics), lenses placed directly on the surface of the Human eye, eyes. Contact lenses are ocular prosthetic devices used by over 150 million people worldwide, and they can be worn to corrective lens, correct vision or for cosmetics, cosmetic or therapeutic reasons. In 2010, the worldwide market for contact lenses was estimated at $6.1 billion, while the US soft lens market was estimated at $2.1 billion.Nichols, Jason J., et a"ANNUAL REPORT: Contact Lenses 2010" January 2011. Multiple analysts estimated that the global market for contact lenses would reach $11.7 billion by 2015. the average age of contact lens wearers globally was 31 years old, and two-thirds of wearers were female.Morgan, Philip B., et al"International Contact Lens Prescribing in 2010" ''Contact Lens Spectrum''. October 2011. People choose to wear contact lenses for many reasons. Aesthetics and cosmetics are main motivating factors for people who want to avo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intraocular Lens
An intraocular lens (IOL) is a lens (optics), lens implanted in the human eye, eye usually as part of a treatment for cataracts or for correcting other vision problems such as myopia, near-sightedness (myopia) and farsightedness, far-sightedness (hyperopia); a form of refractive surgery. If the natural lens is left in the eye, the IOL is known as Phakic intraocular lens, ''phakic'', otherwise it is a ''pseudophakic'' lens (or false lens). Both kinds of IOLs are designed to provide the same light-focusing function as the natural crystalline lens. This can be an alternative to LASIK, but LASIK is not an alternative to an IOL for treatment of cataracts. IOLs usually consist of a small plastic lens with plastic side struts, called haptics, to hold the lens in place in the capsular bag inside the eye. IOLs were originally made of a rigid material (Poly(methyl methacrylate), PMMA), although this has largely been superseded by the use of flexible materials, such as silicone. Most IOLs ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amino Acid Replacement
Amino acid replacement is a change from one amino acid to a different amino acid in a protein due to point mutation in the corresponding DNA sequence. It is caused by nonsynonymous missense mutation which changes the codon sequence to code other amino acid instead of the original. Conservative and radical replacements Not all amino acid replacements have the same effect on function or structure of protein. The magnitude of this process may vary depending on how similar or dissimilar the replaced amino acids are, as well as on their position in the sequence or the structure. Similarity between amino acids can be calculated based on substitution matrices, physico-chemical distance, or simple properties such as amino acid size or charge (see also amino acid chemical properties). Usually amino acids are thus classified into two types: * Conservative replacement - an amino acid is exchanged into another that has similar properties. This type of replacement is expected to rarel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loss Of Function
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Deletion (genetics)
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur, which result in the deletion of a part of the chromosome. The breaks can be induced by heat, viruses, radiation, or chemical reactions. When a chromosome breaks, if a part of it is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by te ... [...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 160 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 gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
