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Atelosteogenesis, Type II
Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and infants with the disorder are usually stillborn; those who survive birth die soon after. Symptoms and signs Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (cleft palate), distinctive facial features, an inward- and downward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). The signs and symptoms of atelosteogenesis, type 2, are similar to those of another skeletal disorder called diastrophic dysplasia. Atelosteogenesis, type 2 tends to be more severe, however. Genetics Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein made by this gene is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cartilage
Cartilage is a resilient and smooth type of connective tissue. In tetrapods, it covers and protects the ends of long bones at the joints as articular cartilage, and is a structural component of many body parts including the rib cage, the neck and the bronchial tubes, and the intervertebral discs. In other taxa, such as chondrichthyans, but also in cyclostomes, it may constitute a much greater proportion of the skeleton. It is not as hard and rigid as bone, but it is much stiffer and much less flexible than muscle. The matrix of cartilage is made up of glycosaminoglycans, proteoglycans, collagen fibers and, sometimes, elastin. Because of its rigidity, cartilage often serves the purpose of holding tubes open in the body. Examples include the rings of the trachea, such as the cricoid cartilage and carina. Cartilage is composed of specialized cells called chondrocytes that produce a large amount of collagenous extracellular matrix, abundant ground substance that is rich in pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone
A bone is a Stiffness, rigid Organ (biology), organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red blood cell, red and white blood cells, store minerals, provide structure and support for the body, and enable animal locomotion, mobility. Bones come in a variety of shapes and sizes and have complex internal and external structures. They are lightweight yet strong and hard and serve multiple Function (biology), functions. Bone tissue (osseous tissue), which is also called bone in the mass noun, uncountable sense of that word, is hard tissue, a type of specialized connective tissue. It has a honeycomb-like matrix (biology), matrix internally, which helps to give the bone rigidity. Bone tissue is made up of different types of bone cells. Osteoblasts and osteocytes are involved in the formation and mineralization (biology), mineralization of bone; osteoclasts are involved in the bone resorption, resor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stillbirth
Stillbirth is typically defined as fetal death at or after 20 or 28 weeks of pregnancy, depending on the source. It results in a baby born without signs of life. A stillbirth can result in the feeling of guilt or grief in the mother. The term is in contrast to miscarriage, which is an early pregnancy loss, and Sudden Infant Death Syndrome, where the baby dies a short time after being born alive. Often the cause is unknown. Causes may include pregnancy complications such as pre-eclampsia and birth complications, problems with the placenta or umbilical cord, birth defects, infections such as malaria and syphilis, and poor health in the mother. Risk factors include a mother's age over 35, smoking, drug use, use of assisted reproductive technology, and first pregnancy. Stillbirth may be suspected when no fetal movement is felt. Confirmation is by ultrasound. Worldwide prevention of most stillbirths is possible with improved health systems. Around half of stillbirths occur durin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birth
Birth is the act or process of bearing or bringing forth offspring, also referred to in technical contexts as parturition. In mammals, the process is initiated by hormones which cause the muscular walls of the uterus to contract, expelling the fetus at a developmental stage when it is ready to feed and breathe. In some species the offspring is precocial and can move around almost immediately after birth but in others it is altricial and completely dependent on parenting. In marsupials, the fetus is born at a very immature stage after a short gestation and develops further in its mother's womb pouch. It is not only mammals that give birth. Some reptiles, amphibians, fish and invertebrates carry their developing young inside them. Some of these are ovoviviparous, with the eggs being hatched inside the mother's body, and others are viviparous, with the embryo developing inside her body, as in the case of mammals. Mammals Large mammals, such as primates, cattle, horses, some ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abdomen
The abdomen (colloquially called the belly, tummy, midriff, tucky or stomach) is the part of the body between the thorax (chest) and pelvis, in humans and in other vertebrates. The abdomen is the front part of the abdominal segment of the torso. The area occupied by the abdomen is called the abdominal cavity. In arthropods it is the posterior (anatomy), posterior tagma (biology), tagma of the body; it follows the thorax or cephalothorax. In humans, the abdomen stretches from the thorax at the thoracic diaphragm to the pelvis at the pelvic brim. The pelvic brim stretches from the lumbosacral joint (the intervertebral disc between Lumbar vertebrae, L5 and Vertebra#Sacrum, S1) to the pubic symphysis and is the edge of the pelvic inlet. The space above this inlet and under the thoracic diaphragm is termed the abdominal cavity. The boundary of the abdominal cavity is the abdominal wall in the front and the peritoneal surface at the rear. In vertebrates, the abdomen is a large body c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. A cleft lip or palate can be successfully treated with surgery. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clubfoot
Clubfoot is a birth defect where one or both feet are rotated inward and downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. In approximately 50% of cases, clubfoot affects both feet, but it can present unilaterally causing one leg or foot to be shorter than the other. Most of the time, it is not associated with other problems. Without appropriate treatment, the foot deformity will persist and lead to pain and impaired ability to walk, which can have a dramatic impact on the quality of life. The exact cause is usually not identified. Both genetic and environmental factors are believed to be involved. There are two main types of congenital clubfoot: idiopathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic factors. There appears to be hereditary component for this birth d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diastrophic Dysplasia
Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development. ("Diastrophism" is a general word referring to a twisting.) Diastrophic dysplasia is due to mutations in the ''SLC26A2'' gene. Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility. Signs and symptoms This condition is also characterized by an unusual clubfoot with twisting of the metatarsals, inward- and upward-turning foot, tarsus varus and inversion adducted appearances. Furthermore, they classically present with scoliosis (progressive curvature of the spine) and unusually positioned thumbs (hitchhiker's thumbs). About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth called a cleft palate. Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears. The signs and symptoms of diastrophic dysplasia are similar to those of another skeletal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC26A2
The sulfate transporter is a solute carrier family protein that in humans is encoded by the ''SLC26A2'' gene. SLC26A2 is also called the diastrophic dysplasia sulfate transporter (DTDST), and was first described by Hästbacka et al. in 1994. A defect in sulfate activation described by Superti-Furga in achondrogenesis type 1B was subsequently also found to be caused by genetic variants in the sulfate transporter gene. This sulfate (SO42−) transporter also accepts chloride, hydroxyl ions (OH−), and oxalate as substrates. SLC26A2 is expressed at high levels in developing and mature cartilage, as well as being expressed in lung, placenta, colon, kidney, pancreas and testis. Function The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. In chondrocytes, SLC26A2 functions to transport most of the cellular sulfate, which is critical for the sulfation of proteoglycans and normal cartilage fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal 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] |
Autosome
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] |
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