|
Axenfeld–Rieger Syndrome
Axenfeld–Rieger syndrome is a rare autosomal dominance (genetics), dominant disorder, which affects the development of the teeth, eyes, and abdominal region. Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis. Although the exact classification of this set of signs and symptoms is somewhat confusing in current scientific literature, most authors agree with the classification cited here. Axenfeld Anomaly is known as the development of a posterior embryotoxon, associated with strands of the iris adhered to a Schwalbe line that has been displaced anteriorly, which when added to glaucoma is called Axenfeld Syndrome. Rieger's Anomaly is defined by a universe of congenital anomalies of the iris, such as Iris hypoplasia with glaucoma, iris hypoplasia, corectopia or polycoria.Rieger H. Contributions to th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microdontia
Microdontia is a condition in which one or more teeth appear smaller than normal. In the generalized form, all teeth are involved. In the localized form, only a few teeth are involved. The most common teeth affected are the upper lateral incisors and third molars. Teeth affected by microdontia may also have abnormal shape, and the abnormal size may affect the whole tooth, or only a part of the tooth. Definition Males tend to have larger teeth than females, and tooth size also varies by race. Abnormal tooth size is defined by some as when the dimensions are more than 2 standard deviations from the average. Microdontia is when the teeth are abnormally small, and macrodontia is when the teeth are abnormally large. Classification There are 3 types of microdontia: True generalized All the teeth are smaller than the normal size. True generalized microdontia is very rare, and occurs in pituitary dwarfism. Due to decreased levels of growth hormone the teeth fail to develop to a normal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Forkhead Box C1
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the ''FOXC1'' gene. Function This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Heart development and somitogenesis FOXC1 and its close relative, FOXC2 are both critical components in the development of the heart and blood vessels, as well as the segmentation of the paraxial mesoderm and the formation of somites. Expression of the Fox proteins range from low levels in the posterior pre-somitic mesoderm (PSM) to the highest levels in the anterior PSM. Homozygous mutant embryos for both Fox proteins failed to form somites 1-8, which indicates the importance of these proteins early on in somite development. In cardiac morphogenesis, FOXC1 and FOXC2 are requir ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Eye
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, a synd ... [...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 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] |
United States Department Of Health And Human Services
The United States Department of Health and Human Services (HHS) is a cabinet-level executive branch department of the U.S. federal government created to protect the health of all Americans and providing essential human services. Its motto is "Improving the health, safety, and well-being of America". Before the separate federal Department of Education was created in 1979, it was called the Department of Health, Education, and Welfare (HEW). HHS is administered by the Secretary of Health and Human Services, who is appointed by the president with the advice and consent of the United States Senate. The position is currently held by Xavier Becerra. The United States Public Health Service Commissioned Corps, the uniformed service of the PHS, is led by the Surgeon General who is responsible for addressing matters concerning public health as authorized by the secretary or by the assistant secretary for Health in addition to his or her primary mission of administering the Commission ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Theodor Axenfeld
Karl Theodor Paul Polykarpus Axenfeld (24 June 1867 – 29 July 1930) was a German ophthalmologist born in Smyrna (İzmir) in the Ottoman Empire to a German minister, who was a Jewish convert to Christianity and served as missionary in Asia Minor. As a child his family moved back to Germany, settling in the town of Godesberg. He received his medical doctorate in 1890 from the University of Marburg. In 1896 he became an assistant to Wilhelm Uhthoff (1853–1927) at Breslau, and during the following year, was appointed director of the university eye clinic in Rostock. In 1901 he attained the chair of ophthalmology in Freiburg, where he remained until his death in 1930. In 1925 he was chosen as president of the German Ophthalmological Society (''Deutsche ophthalmologische Gesellschaft''). Publications and research Axenfeld was involved in all aspects of ophthalmology and is associated with almost 200 written works involving the eye, including an important textbook of ophthalmology ti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a medical degree, a doctor specialising in ophthalmology must pursue additional postgraduate residency (medicine), residency training specific to that field. This may include a one-year integrated internship that involves more general medical training in other fields such as internal medicine or general surgery. Following residency, additional specialty training (or fellowship) may be sought in a particular aspect of eye pathology. Ophthalmologists prescribe medications to treat eye diseases, implement laser therapy, and perform surgery when needed. Ophthalmologists provide both primary and specialty eye care - medical and surgical. Most ophthalmologists participate in academic research on eye diseases at some point in their training an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amniocentesis
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman. The needle punctures the amnion, which is the membrane that surrounds the developing fetus. The fluid within the amnion is called amniotic fluid, and because this fluid surrounds the developing fetus, it contains fetal cells. The amniotic fluid is sampled and analyzed via methods such as karyotyping and DNA analysis technology for genetic abnormalities. An amniocentesis is typically performed in the second trimester between the 15th and 20th week of gestation. Women who choose to have this test are prima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chorionic Villus Sampling
Chorionic villus sampling (CVS), sometimes called "chorionic ''villous'' sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. It is the preferred technique before 15 weeks. CVS was performed for the first time in Milan by Italian biologist Giuseppe Simoni, scientific director of Biocell Center, in 1983. Use as early as eight weeks in special circumstances has been described. It can be performed in a transcervical or transabdominal manner. Although this procedure is mostly associated with testing for Down syndrome, overall, CVS can detect more than 200 disorders. Indications Poss ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Preimplantation Genetic Diagnosis
Preimplantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy. The latter technique has proved to be less deleterious for the embryo, therefore it is advisable to perform the biopsy around day 5 or 6 of development. The world's first PGD was performed by Handyside, Kontogianni and Winston at the Hammersmith Hospital in London. Female embryos were selectively transferred ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXC1
Forkhead box C1, also known as FOXC1, is a protein which in humans is encoded by the ''FOXC1'' gene. Function This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding fork head domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Heart development and somitogenesis FOXC1 and its close relative, FOXC2 are both critical components in the development of the heart and blood vessels, as well as the segmentation of the paraxial mesoderm and the formation of somites. Expression of the Fox proteins range from low levels in the posterior pre-somitic mesoderm (PSM) to the highest levels in the anterior PSM. Homozygous mutant embryos for both Fox proteins failed to form somites 1-8, which indicates the importance of these proteins early on in somite development. In cardiac morphogenesis, FOXC1 and FOXC2 are requir ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXO1A
Forkhead box protein O1 (FOXO1), also known as forkhead in rhabdomyosarcoma (FKHR), is a protein that in humans is encoded by the ''FOXO1'' gene. FOXO1 is a transcription factor that plays important roles in regulation of gluconeogenesis and glycogenolysis by insulin signaling, and is also central to the decision for a pre adipocyte to commit to adipogenesis. It is primarily regulated through phosphorylation on multiple residues; its transcriptional activity is dependent on its phosphorylation state. Function Adipogenesis FOXO1 negatively regulates adipogenesis. Presently, the exact mechanism by which this is accomplished is not entirely understood. In the currently accepted model, FOXO1 negatively regulates adipogenesis by binding to the promoter sites of PPARG and preventing its transcription. Rising levels of PPARG are required to initiate adipogenesis; by preventing its transcription, FOXO1 is preventing the onset of adipogenesis. During stimulation by insulin, FOXO1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
