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Nail–patella Syndrome
Nail–patella syndrome is a genetic disorder that results in small, poorly developed nail (anatomy), nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail–patella" can be very misleading because the syndrome often affects many other areas of the body, including even the production of certain proteins.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . The severity of these effects varies depending on the individual. It is also referred to as iliac horn syndrome, hereditary onychoosteodysplasia (HOOD syndrome), Fong disease or Turner–Kieser syndrome.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. Page 786-7. . Diagnosis of NPS can be made at birth but is common for it to remain undiagnosed for several generations. While there is no cure available for NPS, treatment is avail ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LMX1B
LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the ''LMX1B'' gene. Function LMX1B is a LIM domain, LIM homeobox transcription factor which plays a central role in Limb development#Dorsal.2Fventral patterning, dorso-ventral patterning of the vertebrate limb. Clinical significance Loss-of-function mutations in the ''LMX1B'' gene are associated with Nail-patella syndrome. References Further reading * * * * * * * * * * * * * * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Nail-Patella Syndrome * {{gene-9-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Locus (genetics)
In genetics, a locus (: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of Human genome#Coding sequences (protein-coding genes), protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygote, homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygote, heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor Deficiencies
Transcription refers to the process of converting sounds (voice, music etc.) into letters or musical notes, or producing a copy of something in another medium, including: Genetics * Transcription (biology), the copying of DNA into RNA, often the first step in gene expression ** Abortive transcription, the generation of very short RNA transcripts which are not used and rapidly degraded ** Bacterial transcription, the generation of RNA transcripts of the genetic material in bacteria ** Eukaryotic transcription, the process of copying the genetic information stored in DNA into RNA in eukaryotes ** Reverse transcription, the process of copying the genetic information stored in RNA into DNA in viruses ** ''Transcription'' (journal), an academic journal about genetics ** Transcription factor In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription (genetics), transcription of genetics, ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorders
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 is called 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Conditions Of The Skin Appendages
Condition or conditions may refer to: In philosophy and logic * Material conditional The material conditional (also known as material implication) is a binary operation commonly used in logic. When the conditional symbol \to is interpreted as material implication, a formula P \to Q is true unless P is true and Q is false. M ..., a logical connective used to form "if...then..." statements * Necessary and sufficient condition, a statement which is true if and only if another given statement is true In science and technology In computer science * Exception handling#Condition systems, a generalization of exceptions in exception handling * Condition (SQL), a filtering mechanism in relational database queries * Condition variable, a synchronization primitive in concurrent programming In medicine * Medical condition, as a synonym for disease * Medical state or condition, a patient's clinical status in a hospital In numerical analysis * Condition number, a measure of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Kidneys
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ILDS
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization. It was founded in 1935, but because of World War II no congresses were held until 1952. It is governed by the International Committee of Dermatology. The ILDS is the parent organization of the International Foundation for Dermatology, founded in 1987. After the publication of ICD-10, the ILDS produced a series of compatible extensions for use in dermatology Dermatology is the branch of medicine dealing with the Human skin, skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A List of dermatologists, .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Radiographic Findings Associated With Cutaneous Conditions
Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person. See also * List of cutaneous conditions * List of contact allergens * List of cutaneous conditions associated with internal malignancy * List of cutaneous conditions caused by mutations in keratins * List of cutaneous conditions caused by problems with junctional proteins * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * List of immunofluorescence findings for autoimmune bullous conditions * List of inclusion bodies that aid in diagnosis of cutaneous conditions * List of keratins expressed in the human integumentary system * List of specialized glands within the human integumentary system * List of target antigens in pemphigoid * List of target antigens in pemphigus References * * {{DEFAULTSORT:Radiographic findings associated with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis (skin), epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. Embryology, In the embryo, the epidermis, hair, and glands form from the ectod ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Analgesic
An analgesic drug, also called simply an analgesic, antalgic, pain reliever, or painkiller, is any member of the group of drugs used for pain management. Analgesics are conceptually distinct from anesthetics, which temporarily reduce, and in some instances eliminate, sensation, although analgesia and anesthesia are neurophysiologically overlapping and thus various drugs have both analgesic and anesthetic effects. Analgesic choice is also determined by the type of pain: For neuropathic pain, recent research has suggested that classes of drugs that are not normally considered analgesics, such as tricyclic antidepressants and anticonvulsants may be considered as an alternative. Various analgesics, such as many NSAIDs, are available over the counter in most countries, whereas various others are prescription drugs owing to the substantial risks and high chances of overdose, misuse, and addiction in the absence of medical supervision. Etymology The word ''analgesic'' derive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Transplant
Kidney transplant or renal transplant is the organ transplant of a kidney into a patient with end-stage kidney disease (ESRD). Kidney transplant is typically classified as deceased-donor (formerly known as cadaveric) or living-donor transplantation depending on the source of the donor organ. Living-donor kidney transplants are further characterized as genetically related (living-related) or non-related (living-unrelated) transplants, depending on whether a biological relationship exists between the donor and recipient. The first successful kidney transplant was performed in 1954 by a team including Joseph Murray, the recipient's surgeon, and Hartwell Harrison, surgeon for the donor. Murray was awarded a Nobel Prize in Physiology or Medicine in 1990 for this and other work. In 2018, an estimated 95,479 kidney transplants were performed worldwide, 36% of which came from living donors. Before receiving a kidney transplant, a person with ESRD must undergo a thorough medical evaluat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
