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Branchio-oto-renal Syndrome
Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear ( pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck. In some individuals and families, renal features are completely absent. The disease may then be termed "branchio-oto syndrome" (BO syndrome)., updated, 2015, Cause The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approxi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Phenotypic trait, Trait inheritance and Molecular genetics, molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the Cell (bi ... [...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] |
Syndromes Affecting Hearing
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 syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Branchio-oculo-facial Syndrome
Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. Symptoms of this condition include skin abnormalities on the neck, deformities of the ears and eyes, and other distinctive facial features such a cleft lip along with slow growth, intellectual disability and premature graying of hair. Signs and symptoms "Branchio" refers to the branchial arches, also known as the pharyngeal arches, of the affected individual. The branchial arches are structures in the developing embryo that give rise to certain tissues in the neck and facial area. In individuals affected by this condition, the branchial arches fail to develop properly. This leads to some of the physical conditions of this syndrome, which include abnormal patches of skin on the neck and face region and can be abnormally hairy, thin or red and with a high number of blood vessels. "Oculo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lachiewicz–Sibley Syndrome
Lachiewicz–Sibley syndrome is a rare autosomal dominant disorder characterized by preauricular pits and renal disease. Persons with this disease may have hypoplasic kidneys or proteinuria. This disease was first described in a Caucasian family of British and Irish descent that emigrated to Ohio in the 19th century before settling in Nebraska. Many of the members of this family still live in Nebraska, although the relatives are now scattered throughout the country. Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz–Sibley syndrome is characterized by only preauricular pitting and renal disease. Persons with BOR syndrome also present with hearing loss, branchial fistulas or cysts, malformed ears, and lacrimal stenosis. Other anomalies in BOR syndrome may include a long narrow face, a deep overbite, and facial paralysis. It was characterized in 1985. See also * Branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Western Countries
The Western world, also known as the West, primarily refers to various nations and states in Western Europe, Northern America, and Australasia; with some debate as to whether those in Eastern Europe and Latin America also constitute the West. The Western world likewise is called the Occident () in contrast to the Eastern world known as the Orient (). Definitions of the "Western world" vary according to context and perspectives; the West is an evolving concept made up of cultural, political, and economic synergy among diverse groups of people, and not a rigid region with fixed borders and members. Some historians contend that a linear development of the West can be traced from Ancient Greece and Rome, while others argue that such a projection constructs a false genealogy. A geographical concept of the West started to take shape in the 4th century CE when Constantine, the first Christian Roman emperor, divided the Roman Empire between the Greek East and Latin West. The East R ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Dialysis
Kidney dialysis is the process of removing excess water, solutes, and toxins from the blood in people whose kidneys can no longer perform these functions naturally. Along with kidney transplantation, it is a type of renal replacement therapy. Dialysis may need to be initiated when there is a sudden rapid loss of kidney function, known as acute kidney injury (previously called acute renal failure), or when a gradual decline in kidney function, chronic kidney failure, reaches stage 5. Stage 5 chronic renal failure is reached when the glomerular filtration rate is less than 15% of the normal, creatinine clearance is less than 10 mL per minute, and uremia is present. Dialysis is used as a temporary measure in either acute kidney injury or in those awaiting kidney transplant and as a permanent measure in those for whom a transplant is not Indication (medicine), indicated or not possible.Pendse S, Singh A, Zawada E. "Initiation of Dialysis". In: ''Handbook of Dialysis''. 4th ed. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Otitis Media Entdifferenziert2
Otitis is a general term for inflammation in ear or ear infection, inner ear infection, middle ear infection of the ear, in both humans and other animals. When infection is present, it may be viral or bacterial. When inflammation is present due to fluid build up in the middle ear and infection is not present it is considered Otitis media with effusion. It is subdivided into the following: * ''Otitis externa'', external otitis, involves inflammation (either infectious or non-infectious) of the external auditory canal, sometimes extending to the pinna or tragus. Otitis externa can be acute or chronic. It can be fungal or bacterial. The most common aetiology of acute otitis externa is bacterial infection, while chronic cases are often associated with underlying skin diseases such as eczema or psoriasis. A third form, malignant otitis externa, or necrotising otitis externa, is a potentially life-threatening, invasive infection of the external auditory canal and skull. Usually associat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tissue (biology)
In biology, tissue is an assembly of similar cells and their extracellular matrix from the same embryonic origin that together carry out a specific function. Tissues occupy a Biological organisation#Levels, biological organizational level between cell (biology), cells and a complete organ (biology), organ. Accordingly, organs are formed by the functional grouping together of multiple tissues. The English word "tissue" Morphological derivation, derives from the French word "", the past participle of the verb tisser, "to weave". The study of tissues is known as histology or, in connection with disease, as histopathology. Xavier Bichat is considered as the "Father of Histology". Plant histology is Studied Space Shuttle designs, studied in both plant anatomy and Plant physiology, physiology. The classical tools for studying tissues are the Microtome#Applications, paraffin block in which tissue is embedded and then sectioned, the staining, histological stain, and the Microscope, o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organ (anatomy)
In a multicellular organism, an organ is a collection of Tissue (biology), tissues joined in a structural unit to serve a common function. In the biological organization, hierarchy of life, an organ lies between Tissue (biology), tissue and an organ system. Tissues are formed from same type Cell (biology), cells to act together in a function. Tissues of different types combine to form an organ which has a specific function. The Gastrointestinal tract, intestinal wall for example is formed by epithelial tissue and smooth muscle tissue. Two or more organs working together in the execution of a specific body function form an organ system, also called a biological system or body system. An organ's tissues can be broadly categorized as parenchyma, the functional tissue, and stroma (tissue), stroma, the structural tissue with supportive, connective, or ancillary functions. For example, the gland's tissue that makes the hormones is the parenchyma, whereas the stroma includes the nerve t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Embryonic Development
In developmental biology, animal embryonic development, also known as animal embryogenesis, is the developmental stage of an animal embryo. Embryonic development starts with the fertilization of an egg cell (ovum) by a sperm, sperm cell (spermatozoon). Once fertilized, the ovum becomes a single diploid cell known as a zygote. The zygote undergoes mitosis, mitotic cell division, divisions with no significant growth (a process known as cleavage (embryo), cleavage) and cellular differentiation, leading to development of a multicellular embryo after passing through an organizational checkpoint during mid-embryogenesis. In mammals, the term refers chiefly to the early stages of prenatal development, whereas the terms fetus and fetal development describe later stages. The main stages of animal embryonic development are as follows: * The zygote undergoes a series of cell divisions (called cleavage) to form a structure called a morula. * The morula develops into a structure called a bla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
