1.
Phalanx bone
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The phalanges /fəˈlæŋdʒiːz/ are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges, the phalanges are classed as long bones. The phalanges are the bones that make up the fingers of the hand, there are 56 phalanges in the human body, with fourteen on each hand and foot. Three phalanges are present on each finger and toe, with the exception of the thumb and large toe, the middle and far phalanges of the fourth and fifth toes are often fused together. The phalanges of the hand are known as the finger bones. The phalanges of the foot differ from the hand in that they are shorter and more compressed, especially in the proximal phalanges. The phalanges are named according to whether they are proximal, intermediate or distal, the proximal phalanges are those that are closest to the hand or foot. In the hand, the prominent, knobby ends of the phalanx is often called the knuckle. The proximal phalanges join with the metacarpals of the hand or metatarsals of the foot at the joint or metatarsophalangeal joint. The intermediate phalanx is not only intermediate in location, but usually also in size, the thumb and large toe do not possess a middle phalanx. The distal phalanges are the bones at the tips of the fingers or toes, the proximal, intermediate, and distal phalanges articulate with one another through interphalangeal articulations. Each phalanx consists of a part, called the body. The body is flat on either side, concave on the palmar surface and its sides are marked with rough areas giving attachment to fibrous sheaths of flexor tendons. The proximal extremities of the bones of the first row present oval, concave articular surfaces, the proximal extremity of each of the bones of the second and third rows presents a double concavity separated by a median ridge. In the foot, the proximal phalanges have a body that is compressed from side to side, convex above, the base is concave, and the head presents a trochlear surface for articulation with the second phalanx. The middle are remarkably small and short, but rather broader than the proximal, in the hand, the distal phalanges are flat on their palmar surface, small, and with a roughened, elevated surface of horseshoe form on the palmar surface, supporting the finger pulp. The flat, wide expansions found at the tips of the phalanges are called apical tufts. They support the fingertip pads and nails, the phalanx of the thumb has a pronounced insertion for the flexor pollicis longus, an ungual fossa, and a pair of unequal ungual spines
2.
National Institutes of Health
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The National Institutes of Health is a biomedical research facility primarily located in Bethesda, Maryland. An agency of the United States Department of Health and Human Services, it is the agency of the United States government responsible for biomedical. The NIH comprises 27 separate institutes and centers that conduct research in different disciplines of biomedical science, NIHs roots extend back to a Marine Hospital Service in the late 1790s that provided medical relief to sick and disabled men in the U. S. Navy. By 1870, a network of hospitals had developed and was placed under the charge of a medical officer within the Bureau of the Treasury Department. In 1887 a laboratory for the study of bacteria, the Hygienic Laboratory, was established at the Marine Hospital in New York, in the early 1900s, Congress began appropriating funds for the Marine Hospital Service. By 1922, this changed its name to Public Health Services. This marked the beginning of a partnership with universities, in 1930, the Hygienic Laboratory was re-designated as the National Institute of Health by the Ransdell Act and was given $750,000 to construct two NIH buildings. Over the next few decades, Congress would increase its funding tremendously to the NIH, in 1944, the Public Health Service Act was approved, and National Cancer Institute became a division of NIH. In 1948, the changed from National Institute of Health to National Institutes of Health. In the 1960s prominent virologist and cancer researcher Chester M. Southam injected HeLa cancer cells into patients at the Jewish Chronic Disease Hospital, when three doctors resigned after refusing to inject patients without their consent, this experiment gained considerable media attention. The NIH was a source of funding for Southam’s research and had required all research involving human subjects to obtain their consent prior to any experimentation. }Upon investigating all of their grantee institutions. From then on, the NIH has required all grantee institutions to approve any research involving human experimentation with review boards. In 1967 the Division of Regional Medical Programs was created to administer grants for research for heart disease, cancer, and strokes. That same year, the NIH director lobbied the White House for increased funding in order to increase research. An advisory committee was formed to further development of the NIH. The funding of NIH has often been a source of contention in Congress and this contention was seen most dramatically during the 1980s, when President Reagan repeatedly tried to cut funding for research, only to see Congress partly restore funding. But it was not until July 1987, as NIH celebrated its 100th anniversary, by the 1990s, the focus of the NIH committee had shifted to DNA research, and the Human Genome Project was launched. In 2009, President Obama reinstated federally funded research, revoking the ban imposed by President Bush in 2001
3.
Dominance (genetics)
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Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus. The first allele is dominant and the allele is recessive. For genes on an autosome, the alleles and their traits are autosomal dominant or autosomal recessive. Dominance is a key concept in Mendelian inheritance and classical genetics, often the dominant allele codes for a functional protein whereas the recessive allele does not. A classic example of dominance is the inheritance of seed shape in peas, peas may be round, associated with allele R or wrinkled, associated with allele r. In this case, three combinations of alleles are possible, RR, Rr, and rr, the RR individuals have round peas and the rr individuals have wrinkled peas. In Rr individuals the R allele masks the presence of the r allele, thus, allele R is dominant to allele r, and allele r is recessive to allele R. This use of upper case letters for dominant alleles and lower case ones for recessive alleles is a widely followed convention, more generally, where a gene exists in two allelic versions, three combinations of alleles are possible, AA, Aa, and aa. Dominance is not inherent to either an allele or its phenotype and it is a relationship between two alleles of a gene and their associated phenotypes, one allele can be dominant over a second allele, recessive to a third allele, and codominant to a fourth. Also, an allele may be dominant for an aspect of phenotype. Dominance differs from epistasis, a relationship in which an allele of one gene affects the expression of another allele at a different gene, the concept of dominance was introduced by Gregor Johann Mendel. Though Mendel, The Father of Genetics, first used the term in the 1860s, when bred separately, the plants always produced the same phenotypes, generation after generation. However, when lines with different phenotypes were crossed, one, Mendel did not use the terms gene, allele, phenotype, genotype, homozygote, and heterozygote, all of which were introduced later. He did introduce the notation of capital and lowercase letters for dominant and recessive alleles, respectively, most animals and some plants have paired chromosomes, and are described as diploid. They have two versions of each chromosome, one contributed by the mothers ovum, and the other by the sperm, known as gametes, described as haploid. Each chromosome of a pair is structurally similar to the other. The DNA in each chromosome functions as a series of genes that influence various traits. Thus, each also has a corresponding homologue, which may exist in different versions called alleles
4.
Medical genetics
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Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. 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. Genetic medicine is a term for medical genetics and incorporates areas such as gene therapy, personalized medicine. Medical genetics is becoming relevant to many common diseases. In some ways, many of the fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology that have enabled an unprecedented understanding of genetic disorders, Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, in the United States, physicians who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics. In order to become a practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders, molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Molecular tests are used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome. Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis, there exists some overlap between medical genetic diagnostic laboratories and molecular pathology. Genetic counseling is the process of providing information about conditions, diagnostic testing. Genetic counselors are non-physician members of the medical team who specialize in family risk assessment. The precise role of the genetic counselor varies somewhat depending on the disorder, although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century, mendelian inheritance was studied in a number of important disorders such as albinism, brachydactyly, and hemophilia. Mathematical approaches were devised and applied to human genetics
5.
Nomogram
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Nomograms use a parallel coordinate system invented by dOcagne rather than standard Cartesian coordinates. A nomogram consists of a set of n scales, one for each variable in an equation. Knowing the values of n-1 variables, the value of the variable can be found, or by fixing the values of some variables. The result is obtained by laying a straightedge across the values on the scales. The virtual or drawn line created by the straightedge is called a line or isopleth. Nomograms flourished in different contexts for roughly 75 years because they allowed quick. Results from a nomogram are obtained very quickly and reliably by simply drawing one or more lines, the user does not have to know how to solve algebraic equations, look up data in tables, use a slide rule, or substitute numbers into equations to obtain results. The user does not even need to know the underlying equation the nomogram represents, in addition, nomograms naturally incorporate implicit or explicit domain knowledge into their design. For example, to create larger nomograms for greater accuracy the nomographer usually includes only scale ranges that are reasonable, many nomograms include other useful markings such as reference labels and colored regions. All of these provide useful guideposts to the user, while the slide rule is intended to be a general-purpose device, a nomogram is designed to perform a specific calculation, with tables of values effectively built into the construction of the scales. Nomograms are typically used in applications where the level of accuracy they offer is sufficient, alternatively, a nomogram can be used to check an answer obtained from another, more exact but possibly error-prone calculation. Other types of graphical calculators such as charts, trilinear diagrams. These do not meet the definition of a nomogram as a graphical calculator whose solution is found by the use of one or more linear isopleths. A nomogram for a three-variable equation typically has three scales, although there exist nomograms in which two or even all three scales are common, here two scales represent known values and the third is the scale where the result is read off. The simplest such equation is u1 + u2 + u3 =0 for the three variables u1, u2 and u3, an example of this type of nomogram is shown on the right, annotated with terms used to describe the parts of a nomogram. More complicated equations can sometimes be expressed as the sum of functions of the three variables. For example, the nomogram at the top of this article could be constructed as a parallel-scale nomogram because it can be expressed as such a sum after taking logarithms of both sides of the equation. The scale for the variable can lie between the other two scales or outside of them
6.
Locus (genetics)
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A locus in genetics is the position on a chromosome. Each chromosome carries many genes, humans estimated haploid protein coding genes are 19, 000-20,000, a variant of the similar DNA sequence located at a given locus is called an allele. The ordered list of known for a particular genome is called a gene map. Gene mapping is the process of determining the locus for a biological trait. The chromosomal locus of a gene might be written 3p22.1, here 3 means chromosome 3, p means p-arm. And 22 refers to region 2, band 2 and this is read as two two, not as twenty-two. So the entire locus is read as three P two two point one, the cytogenetic bands are counting from the centromere out toward the telomeres. A range of loci is specified in a similar way. For example, the locus of gene OCA1 may be written 11q1. 4-q2.1, meaning it is on the arm of chromosome 11. The ends of a chromosome are labeled pter and qter, a centisome is defined as 1% of a chromosome length. Chromosomal translocation Cytogenetic notation Karyotype Null allele Michael, R. Cummings, belmont, California, Brooks/Cole Overview at ornl. gov Chromosome Banding and Nomenclature from NCBI
