|
Floating–Harbor Syndrome
Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development. Although its cause is unknown, it is thought to result from genetic mutation, and diagnosis is established by the presence of a heterozygous SRCAP mutation in those with clinical findings of FHS. Signs and symptoms Below are the common clinical features of those diagnosed with Floating–Harbor syndrome. Patients will show varying degrees of some or all FHS symptoms. Facial abnormalities are the most defining aspects of those diagnosed with this disease. Cardinal facial features * Triangular face * Deep-set eyes * Short philtrum * Wide mouth with a thin vermilion border of the upper lip * Long nose with a narrow bridge and broad, bulbous base ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Age
Bone age is the degree of a person's skeletal development. In children, bone age serves as a measure of physiological maturity and aids in the diagnosis of growth abnormalities, endocrine disorders, and other medical conditions. As a person grows from fetal life through childhood, puberty, and finishes growth as a young adult, the bones of the skeleton change in size and shape. These changes can be seen by x-ray and other imaging techniques. A comparison between the appearance of a patient's bones to a standard set of bone images known to be representative of the average bone shape and size for a given age can be used to assign a "bone age" to the patient. Bone age is distinct from an individual's biological or chronological age, which is the amount of time that has elapsed since birth. Discrepancies between bone age and biological age can be seen in people with stunted growth, where bone age may be less than biological age. Similarly, a bone age that is older than a person's chrono ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nonsense Mutation
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a ''nonsense codon'' in the transcribed mRNA, and in leading to a truncated, incomplete, and usually nonfunctional protein product. The functional effect of a nonsense mutation depends on the location of the stop codon within the coding DNA. For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected. As nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations. Missense mutations differ from nonsense mutations since they are point mutations that exhibit a single nucleotide change to cause substitution of a different amino acid. A nonsense mutation also differs from a nonstop mutation, which is a point mutation that removes a stop codon. About 10% of patients fa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Columella
Lucius Junius Moderatus Columella (; Arabic: , 4 – ) was a prominent writer on agriculture in the Roman Empire. His ' in twelve volumes has been completely preserved and forms an important source on Roman agriculture, together with the works of Cato the Elder and Marcus Terentius Varro, both of which he occasionally cites. A smaller book on trees, ', is usually attributed to him. In 1794 the Spanish botanists José Antonio Pavón Jiménez and Hipólito Ruiz López named a genus of Peruvian asterid ''Columellia'' in his honour. Personal life Little is known of Columella's life. He was probably born in Gades, Hispania Baetica (modern Cádiz), possibly to Roman parents. After a career in the army (he was tribune in Syria in 35), he turned to farming his estates at Ardea, Carseoli, and Alba in Latium. ''De re rustica'' In ancient times, Columella's work "appears to have been but little read", cited only by Pliny the Elder, Servius, Cassiodorus, and Isidorus, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
California
California is a state in the Western United States, located along the Pacific Coast. With nearly 39.2million residents across a total area of approximately , it is the most populous U.S. state and the 3rd largest by area. It is also the most populated subnational entity in North America and the 34th most populous in the world. The Greater Los Angeles area and the San Francisco Bay Area are the nation's second and fifth most populous urban regions respectively, with the former having more than 18.7million residents and the latter having over 9.6million. Sacramento is the state's capital, while Los Angeles is the most populous city in the state and the second most populous city in the country. San Francisco is the second most densely populated major city in the country. Los Angeles County is the country's most populous, while San Bernardino County is the largest county by area in the country. California borders Oregon to the north, Nevada and Arizona to the ea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Torrance, California
Torrance is a city in the Los Angeles metropolitan area located in Los Angeles County, California, United States. The city is part of what is known as the South Bay region of the metropolitan area. Torrance has of beachfront on the Pacific Ocean and a moderate year-round climate with an average rainfall of per year.City of Torrance Website: About Torrance Retrieved 2009-04-07 Torrance was incorporated in 1921, and at the 2020 census had a population of 147,067 residents. The city has 30 parks. The city consistently ranks among the safest cities in Los Angeles County; Torrance is the birthplace of the |
Boston Floating Hospital
Tufts Children's Hospital (formerly Floating Hospital for Children) in Boston, Massachusetts was a downtown Boston pediatric hospital owned by Tufts Medical Center, occupying the space between Chinatown and the Boston Theater District, which closed in summer 2022. In January 2022, Tufts announced they would be closing their 41-bed pediatric hospital later in 2022 but will keep their NICU open. It closed in June 2022. The 41-bed children's hospital offered pediatric inpatient and outpatient services in every medical and surgical specialty. Tufts Children's Hospital was also the principal pediatric teaching hospital for Tufts University School of Medicine, where all full-time physicians held faculty appointments. Tufts Children's Hospital was a member oTufts Medicineand has affiliations with hospitals in the community, including Lawrence General Hospital, Lowell General Hospital, MetroWest Medical Center, Signature Healthcare Brockton Hospital and Cape Cod Hospital. Tufts C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted inf ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Antimorphic
Hermann J. Muller (1890–1967), who was a 1946 Nobel Prize winner, coined the terms amorph, hypomorph, hypermorph, antimorph and neomorph to classify mutations based on their behaviour in various genetic situations, as well as gene interaction between themselves.Muller, H. J. 1932. Further studies on the nature and causes of gene mutations. ''Proceedings of the 6th International Congress of Genetics'', pp. 213–255. These classifications are still widely used in ''Drosophila'' genetics to describe mutations. For a more general description of mutations, see mutation, and for a discussion of allele interactions, see dominance relationship. ''Key: In the following sections, alleles are referred to as +=wildtype, m=mutant, Df=gene deletion, Dp=gene duplication. Phenotypes are compared with '>', meaning 'phenotype is more severe than Loss of function Amorph Amorphic describes a mutation that causes complete loss of gene function. Amorph is sometimes used interchangeably w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ATPase
ATPases (, Adenosine 5'-TriPhosphatase, adenylpyrophosphatase, ATP monophosphatase, triphosphatase, SV40 T-antigen, ATP hydrolase, complex V (mitochondrial electron transport), (Ca2+ + Mg2+)-ATPase, HCO3−-ATPase, adenosine triphosphatase) are a class of enzymes that catalyze the decomposition of ATP into ADP and a free phosphate ion or the inverse reaction. This dephosphorylation reaction releases energy, which the enzyme (in most cases) harnesses to drive other chemical reactions that would not otherwise occur. This process is widely used in all known forms of life. Some such enzymes are integral membrane proteins (anchored within biological membranes), and move solutes across the membrane, typically against their concentration gradient. These are called transmembrane ATPases. Functions Transmembrane ATPases import metabolites necessary for cell metabolism and export toxins, wastes, and solutes that can hinder cellular processes. An important example is the sodium-po ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Notch Signaling Pathway
The Notch signaling pathway is a highly conserved cell signaling system present in most animals. Mammals possess four different notch receptors, referred to as NOTCH1, NOTCH2, NOTCH3, and NOTCH4. The notch receptor is a single-pass transmembrane receptor protein. It is a hetero-oligomer composed of a large extracellular portion, which associates in a calcium-dependent, non-covalent interaction with a smaller piece of the notch protein composed of a short extracellular region, a single transmembrane-pass, and a small intracellular region. Notch signaling promotes proliferative signaling during neurogenesis, and its activity is inhibited by Numb to promote neural differentiation. It plays a major role in the regulation of embryonic development. Notch signaling is dysregulated in many cancers, and faulty notch signaling is implicated in many diseases, including T-cell acute lymphoblastic leukemia ( T-ALL), cerebral autosomal-dominant arteriopathy with sub-cortical infarcts and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rubinstein–Taybi Syndrome
Rubinstein–Taybi syndrome (RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes inherited as an autosomal dominant pattern and is uncommon. Many times it occurs as a de novo (not inherited) occurrence. It occurs in an estimated 1 in 125,000-300,000 births. Presentation Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). (Limb Malformations & Skeletal Dysplasia) Rubinstein–Taybi syndrome presents itself from birth, and is usually hallmarked by delayed p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
