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Mulibrey Nanism
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism") is a rare autosomal recessive congenital disorder. It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye. TRIM37 is responsible for various cellular functions including developmental patterning. Signs/symptoms An individual with Mulibrey nanism has growth retardation, a short broad neck, misshapen sternum, small thorax, square shoulders, enlarged liver, and yellowish dots in the ocular fundi.OMIM (1966-2009). Mulibrey nanism. NCBI (Johns Hopkins University). Retrieved May 7, 2009 from, https://www.ncbi.nlm.nih.gov/omim/?term=253250 Individuals with Mulibrey nanism have also been reported to have intellectual disability, tumors, and infertility. Genetics Mulibrey nanism is caused by mutations of the TRIM37 gene, located at human chromosome 17q22-23. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequest, bequeathing private property and/or debts can be performed by a testator via will (law), will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the decedent, deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Male Karyotpe High Resolution - Chromosome 17 Cropped
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically mode ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Consanguine
Consanguinity ("blood relation", from Latin '' consanguinitas'') is the characteristic of having a kinship with another person (being descended from a common ancestor). Many jurisdictions have laws prohibiting people who are related by blood from marrying or having sexual relations with each other. The degree of consanguinity that gives rise to this prohibition varies from place to place. Such rules are also used to determine heirs of an estate according to statutes that govern intestate succession, which also vary from jurisdiction to jurisdiction. In some places and time periods, cousin marriage is allowed or even encouraged; in others, it is taboo, and considered to be incest. The degree of relative consanguinity can be illustrated with a ''consanguinity table'' in which each level of lineal consanguinity (''generation'' or ''meiosis'') appears as a row, and individuals with a collaterally consanguineous relationship share the same row. The Knot System is a numerical notation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finns
Finns or Finnish people ( fi, suomalaiset, ) are a Baltic Finnic ethnic group native to Finland. Finns are traditionally divided into smaller regional groups that span several countries adjacent to Finland, both those who are native to these countries as well as those who have resettled. Some of these may be classified as separate ethnic groups, rather than subgroups of Finns. These include the Kvens and Forest Finns in Norway, the Tornedalians in Sweden, and the Ingrian Finns in Russia. Finnish, the language spoken by Finns, is closely related to other Balto-Finnic languages, e.g. Estonian and Karelian. The Finnic languages are a subgroup of the larger Uralic family of languages, which also includes Hungarian. These languages are markedly different from most other languages spoken in Europe, which belong to the Indo-European family of languages. Native Finns can also be divided according to dialect into subgroups sometimes called ''heimo'' (lit. ''tribe''), although suc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pericardiectomy
Pericardiectomy is the surgical removal of part or most of the pericardium. This operation is most commonly used to relieve constrictive pericarditis, or to remove a pericardium that is calcified and fibrous. It may also be used for severe or recurrent cases of pericardial effusion. Post-operative outcomes and mortality are significantly impacted by the disease it is used to treat. Uses Pericardiectomy is used to treat constrictive pericarditis, which is caused by a variety of conditions. It is also used to treat recurring cases of pericardial effusion. Contra-indications Pericardiectomy should not be used if more minor procedures are more appropriate, such as a pericardial window. Pericardiectomy may not be appropriate for patients who already have a poor prognosis, as its medical benefit is reduced. This is because pericardiectomy has a higher rate of complications and a higher mortality. More conservative treatment may use diuretics, digoxin, steroids, NSAIDs, or antib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pelvic
The pelvis (plural pelves or pelvises) is the lower part of the trunk, between the abdomen and the thighs (sometimes also called pelvic region), together with its embedded skeleton (sometimes also called bony pelvis, or pelvic skeleton). The pelvic region of the trunk includes the bony pelvis, the pelvic cavity (the space enclosed by the bony pelvis), the pelvic floor, below the pelvic cavity, and the perineum, below the pelvic floor. The pelvic skeleton is formed in the area of the back, by the sacrum and the coccyx and anteriorly and to the left and right sides, by a pair of hip bones. The two hip bones connect the spine with the lower limbs. They are attached to the sacrum posteriorly, connected to each other anteriorly, and joined with the two femurs at the hip joints. The gap enclosed by the bony pelvis, called the pelvic cavity, is the section of the body underneath the abdomen and mainly consists of the reproductive organs (sex organs) and the rectum, while the pelvic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Hormone
Growth hormone (GH) or somatotropin, also known as human growth hormone (hGH or HGH) in its human form, is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals. It is thus important in human development. GH also stimulates production of IGF-1 and increases the concentration of glucose and free fatty acids. It is a type of mitogen which is specific only to the receptors on certain types of cells. GH is a 191-amino acid, single-chain polypeptide that is synthesized, stored and secreted by somatotropic cells within the lateral wings of the anterior pituitary gland. A recombinant form of hGH called somatropin (INN) is used as a prescription drug to treat children's growth disorders and adult growth hormone deficiency. In the United States, it is only available legally from pharmacies by prescription from a licensed health care provider. In recent years in the United States, some health care providers are prescribing growth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Carrier
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait. Carriers in autosomal inheritances Autosomal dominant-recessive inheritance is made possible by the fact that the individuals of most species (including all higher animals and plants) have two alleles of most hereditary predispositions because the chromosomes in the cell nucleus are usually present in pairs (diploid). Carriers can be female or male as the autosomes are homologous independently from the sex. In carriers the expression of a certain characteristic is recessive. The individual has both a genetic predisposition for the dominant trait and a genetic predisposition for the recessive trait, and the dominant expression prevails in the p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...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] |
