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Jalili Syndrome
Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. It was characterized in 1988 by Dr. I. K. Jalili and Dr. N. J. D. Smith, following the examination of 29 members of an inbred Arab family living within the Gaza Strip. Presentation Affected individuals commonly suffer from photophobia, nystagmus and achromatopsia. Other symptoms affecting vision may include night vision difficulties; optic disc pallor; narrow vessels; macular atrophy with pigment mottling; peripheral deep white dot deposits or retinal pigment epithelium (RPE) alterations in the inferonasal retina; decreased foveal and retinal thickness; attenuation of retinal lamination; hyperreflectivity in the choroids (due to RPE and choriocapillaris atrophy); impairment of color vision; and progressive loss of vision with advancing age. In line with ameleogenesis imperfecta, affected members may display teeth yellow-brown in colour, dy ...
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Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be Heredity, inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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USA Today
''USA Today'' (stylized in all uppercase) is an American daily middle-market newspaper and news broadcasting company. Founded by Al Neuharth on September 15, 1982, the newspaper operates from Gannett's corporate headquarters in Tysons, Virginia. Its newspaper is printed at 37 sites across the United States and at five additional sites internationally. The paper's dynamic design influenced the style of local, regional, and national newspapers worldwide through its use of concise reports, colorized images, Infographic, informational graphics, and inclusion of popular culture stories, among other distinct features. With an average print circulation of 159,233 as of 2022, a digital-only subscriber base of 504,000 as of 2019, and an approximate daily readership of 2.6 million, ''USA Today'' is ranked as the first by circulation on the list of newspapers in the United States. It has been shown to maintain a generally center-left audience, in regards to political persuasion. ''US ...
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Palestinian People
Palestinians ( ar, الفلسطينيون, ; he, פָלַסְטִינִים, ) or Palestinian people ( ar, الشعب الفلسطيني, label=none, ), also referred to as Palestinian Arabs ( ar, الفلسطينيين العرب, label=none, ), are an ethnonational group descending from peoples who have inhabited the region of Palestine over the millennia, and who are today culturally and linguistically Arab. Despite various wars and exoduses, roughly one half of the world's Palestinian population continues to reside in the territory of former British Palestine, now encompassing the West Bank and the Gaza Strip (the Palestinian territories) as well as Israel. In this combined area, , Palestinians constituted 49 percent of all inhabitants, encompassing the entire population of the Gaza Strip (1.865 million), the majority of the population of the West Bank (approximately 2,785,000 versus some 600,000 Israeli settlers, which includes about 200,000 in East Jerusalem), ...
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Lebanese People
The Lebanese people ( ar, الشعب اللبناني / ALA-LC: ', ) are the people inhabiting or originating from Lebanon. The term may also include those who had inhabited Mount Lebanon and the Anti-Lebanon Mountains prior to the creation of the modern Lebanese state. The major religious groups among the Lebanese people within Lebanon are Shia Muslims (27%), Sunni Muslims (27%), Maronite Christians (21%), Greek Orthodox Christians (8%), Melkite Christians (5%), Druze (5.2%), Protestant Christians (1%). The largest contingent of Lebanese, however, comprise a diaspora in North America, South America, Europe, Australia and Africa, which is predominantly Maronite Christian. As the relative proportion of the various sects is politically sensitive, Lebanon has not collected official census data on ethnic background since 1932 under the French Mandate. It is therefore difficult to have an exact demographic analysis of Lebanese society. The largest concentration of people of ...
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Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.Definition: hypoplasia
Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia
Stedman's Medical Dictionary. lww.com
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Kosovo
Kosovo ( sq, Kosova or ; sr-Cyrl, Косово ), officially the Republic of Kosovo ( sq, Republika e Kosovës, links=no; sr, Република Косово, Republika Kosovo, links=no), is a partially recognised state in Southeast Europe. It lies at the centre of the Balkans. Kosovo unilaterally declared its independence from Serbia on 17 February 2008, and has since gained diplomatic recognition as a sovereign state by 101 member states of the United Nations. It is bordered by Serbia to the north and east, North Macedonia to the southeast, Albania to the southwest, and Montenegro to the west. Most of central Kosovo is dominated by the vast plains and fields of Dukagjini and Kosovo field. The Accursed Mountains and Šar Mountains rise in the southwest and southeast, respectively. Its capital and largest city is Pristina. In classical antiquity, the central tribe which emerged in the territory of Kosovo were Dardani, who formed an independent polity known as th ...
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Compound Heterozygosity
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations). Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders; mutations in most disease-causing genes have arisen many times. This means that many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes, but both the alleles are defective. These disorders are often best known in some classic form, such as the homozygous recessive case of a particular mutation that is widespread in some population. In its compound heterozygous forms, the disease may have lower penet ...
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Dentin
Dentin () (American English) or dentine ( or ) (British English) ( la, substantia eburnea) is a calcified tissue of the body and, along with enamel, cementum, and pulp, is one of the four major components of teeth. It is usually covered by enamel on the crown and cementum on the root and surrounds the entire pulp. By volume, 45% of dentin consists of the mineral hydroxyapatite, 33% is organic material, and 22% is water. Yellow in appearance, it greatly affects the color of a tooth due to the translucency of enamel. Dentin, which is less mineralized and less brittle than enamel, is necessary for the support of enamel. Dentin rates approximately 3 on the Mohs scale of mineral hardness. There are two main characteristics which distinguish dentin from enamel: firstly, dentin forms throughout life; secondly, dentin is sensitive and can become hypersensitive to changes in temperature due to the sensory function of odontoblasts, especially when enamel recedes and dentin channels becom ...
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Cone Dystrophy
A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. Presentation The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to "counting fingers" vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates. Dystrophy of the rods and cones Dystrophy of the light-sensing cells of the eye may also occur in the rods as well, or in both the cones and the rods. A type of rod-cone dystrophy—where rod function decline is typically earlier or more pronounced than cone dystrophy—has been identified as a relatively common characteristic ...
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