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Overof achondroplasia is a disease of bone growth and development aspects of genetic disease at birth is very obvious. The incidence is 1 / 25, and there is no difference between race and gender. In ancient Egypt, the description of the painting making it the most ancient of recorded birth defects. In a proportion of abnormal physical characteristics of
Achondroplasia growth and development of a set of image defects, achondroplasia is the most common. Prevalence of individual arms and legs are short, while the body length and close to normal. "Achondroplasia" The term comes from Greek, meaning "without cartilage formation", although there is cartilage of affected individuals. During normal fetal development and childhood, in addition to a few parts of the nose and ears of these, the cartilage would normally develop into bone. The cartilage-fat failure patients are in the development process some exceptions, especially in the long bones (such as the upper arm and thigh), long bone growth plate at the cartilage cells into bone cells is very slow, resulting in a long bone shortening to occur. Children with achondroplasia relatively normal trunk length, and shorter arms and legs. Upper arm and thigh and lower leg shorter than the forearm. Typically, large head, prominent forehead and bridge of the nose is characterized by the collapse. Sometimes, large head is the performance of hydrocephalus often require surgery. There are hand short, stubby fingers, separation between t


he middle finger and ring finger (c Chashou) and other features. Achondroplasia is an autosomal dominant genetic disease, through the differentiation of cartilage defects in the development of long bones, the patient showed characteristic short limb of the body of Confucianism, surgery is effective treatment, gene therapy is the future direction. Causes of illness as a cause of congenital dysplasia achondroplasia, the disease has a significant genetic and family history for autosomal dominant inheritance. If one parent has
Achondroplasia disease, children in the 1 / 2 can get sick; such as patients with both parents, the child almost always involved. Since many patients do not get married or giving birth, resulting in no generation, and thus affect the genetic form. So 90% of sporadic cases. Of course, some are due to genetic mutation. In the twins can be an illness, also have 2 female slightly more than men. As a result of failure of endochondral ossification defects in the disease-based causes. In the end of the second fetus was visible. 90% of the parents is normal, but my mother and older increased the incidence of achondroplasia relevant factors. Type dwarf male achondroplasia dominant inheritance under the laws of Mendel genetic has been well known, trace their family history who have up to 6 generations. Achondroplasia is an autosomal dominant genetic disease as a significant portion of cases of stillbirth or neonatal death, the majority of parents of patients with normal development, suggesting that the result of spontaneous mutation. Department of Molecular Genetics, found that encoding fibroblast growth factor receptor gene point mutation, and location of chromosome 4 short arm. Achondroplasia is located on chromosome 4 caused by an abnormal gene (humans have 23 pairs of chromosomes). Some cases, a child from a parents with achondroplasia inherited. If one sick parents, the other is not sick, then their children are 50% likely to get sick; if both parents are sick, their children have a 50% chance of suffering from the disease, 25% chance not sick, there is a 25% chance that the species from each parent an abnormal gene, and there are serious, leading to premature death of skeletal abnormalities. Children without genetic abnormalities of genes will be affected will not have the disease, and will not pass it to their own children. However, more than 80% of cases may not come through genetic, but by the formation of the embryo inside the egg or sperm cells caused by new mutations. Caused by this new mutation in children, their parents can be a normal figure. This phenomenon is typical: the only one sick of these parents, children, and they get pregnant the second time the same risk of disease, particularly small children. Geneticists have found that elderly father (40 years and 40 years old) Birth achondroplasia caused by mutations or by some other new autosomal dominant genetic disease of children are more likely. As mentioned earlier, by the new achondroplasia caused by mutations of affected individuals will pass the disease to their offspring. The pathological changes of the basic pathological changes occurred in the process of cartilage bone, long bone longitudinal growth disruption of the process of intramembranous bone is not affected, so the thickness of the normal bone,
Achondroplasia - CT but relatively short length of thicker cut. Epiphyseal cartilage cells and proliferation may occur, but not for normal calcification and ossification, and thus ends of the bones increases. Microscopically, cartilage cells that were not like normal columnar arrangement of the rules, but scattered, irregular piles, ossification process of the multiple areas, such as the stationary zone, proliferative zone, hypertrophic and calcified zones of the level of preparation have taken place disorder, metaphyseal capillaries can not have rules to carry out normal absorption into the epiphysis, the cartilage cells can not mature calcification of the bone growth. You can also see extensive myxoid degeneration of cartilage, cell swelling, the nucleus increases, the substrate was semi-fluid structure, delayed ossification of cartilage lesions, the distribution was patchy, while the process of calcification between patches is relatively normal. Achondroplasia as epiphyseal plate cartilage with abnormal proliferation, lack of cartilage formation. Do not see the normal columnar arrangement of chondrocytes. And the occurrence of myxoid degeneration. Trabecular bone in the spongy irregular, but normal calcification of bone length growth rate is very low. The role of the membrane of normal bone, so the normal development of bone diameter, but less than the length and appears to thicken. Occasionally to see the formation of blood vessels in the rampant proliferation of fibrous connective tissue with the early healing of the impact of the length of epiphyseal growth stops. Clinical manifestations (a) dwarf dwarf the disease is the most common cause. The body when the fetus can be reflected in its relatively short length of a normal and physically, since the difference by tomorrow
Achondroplasia was, physically proximal humerus and femur, such as shorter than the distal bone, fat, bloated children. To fat mature male average height 131 5.6cm, females 124 5.9cm. 97cm and 104cm on the literature reports. The midpoint of the body in children than in the umbilical, and sometimes even the bottom of the breastbone. Hands can only touch the bottom of the femur under the trochanter, and not as normal as can be achieved under the thigh 1 / 3. Because the body is short, straight bit in the lower extremities, the face can be met toe. (B) Some patients with mild head increased hydrocephalus, dome and prominent forehead, saddle nose, flat nose, thick lips, tongue out (the baby). (C) after the sudden thoracic, lumbar protrusion, the latter is obvious. Sacral level of the hips than the outstanding characteristic. (D) small, flat chest, short rib anomalies. (E) stubby fingers, separate, often see that as a group 4,5, 2,3 refers to a group of the thumb as a group, like "Trident." Some patients with mild elbow extension movements restricted. (F) lower limbs arched, walking, rolling gait (rolling). (Vii) the development of normal intelligence, good teeth, muscle strength is also strong, normal sexual function. Skull X-ray large, prominent forehead, parietal bone and occipital carina than, but short skull base, the foramen magnum was smaller and the funnel, the diameter may be only a normal 1 / 2. Such as hydrocephalus associated with lateral expansion. shorter long bones, the backbone of thick, medullary cavity becomes smaller, the epiphysis can be broken or not was neat. Parts of the knee, common ends of the bones were "V"-shaped separate epiphyseal ossification center and just being embedded in the V-notch. Close to the ossification center of the backbone, so that the feeling of joint space has widened. Bow leg, fibula longer than tibia, ulna longer than radius arm. vertebral thickness decreased, but the reduction in spine length than the decrease in relative limb length is much less. Since the first to the fifth lumbar vertebrae, the distance between the arch became smaller. Narrow spinal canal myelography can see, there are many after disc protrusion. pelvis, ilium flat and round, all tracks are small, move backwards acetabulum, near the sciatic notch, with coxa vara, the acetabulum and femoral head size asymmetry. Short ribs, sternum broad and thick. Scapular angle is not sharp, shallow glenoid and small. Check all of the bone disease was short and thick shape, density, femur and humerus to the most significant impact of the clavicle and fibula lighter than normal so the upper end of fibula. Next
Schematic side achondroplasia below normal, and tibia vara, was "O"-shaped legs, the performance of the backbone of the diameter of normal muscle Reattachment Department of cortical bone thickening. Metaphysis was obviously enlarged, concave to the backbone of the Ministry of epiphyseal plate, the epiphysis of normal size. Secondary ossification nucleus near the metaphysis, like ball and socket relationship, common long bone bending. Foot bones are short and appear coarse, narrow sacrum, the lower position. Sacrum to the pelvic angle was sudden, the greater sciatic notch smaller. External iliac wing sheets, a high degree below normal. Russian mortar flat, the width of the pelvis than the depth increases, due to the reason the short ribs, chest anteroposterior diameter becomes smaller. Sternum short, wide and thick, spine height of normal, but the ossification of the nuclear small, often mild kyphosis, lumbar pedicle is less than the distance between the normal, short and thick pedicle, vertebral body and vertebral arch can be early healing and the formation of spinal stenosis, the sphenoid and the occipital bone around the base of the stunted. Foramen magnum was smaller than normal and the funnel. Normal development of the rest of the skull, prominent forehead, it seems. The disease is primarily for X-ray examination, its performance in the following points: large skull, frontal bossing, occipital than parietal bone and the carina, but the short base of the skull, the foramen magnum was smaller and the funnel, the diameter may be only a normal 1 / 2. Such as hydrocephalus associated with lateral expansion. shorter long bones, the backbone of thick, medullary cavity becomes smaller, the epiphysis can be broken or not was neat. Parts of the knee, common ends of the bones were "V"-shaped separate epiphyseal ossification center and just being embedded in the V-notch. Close to the ossification center of the backbone, so that the feeling of joint space has widened. Bow leg, fibula longer than tibia, ulna longer than radius arm. vertebral thickness decreased, but the reduction in spine length than the decrease in relative limb length is much less. Since the first to the fifth lumbar vertebrae, the distance between the arch became smaller. Narrow spinal canal myelography can see, there are many after disc protrusion. pelvis, ilium flat and round, all tracks are small, move backwards acetabulum, near the sciatic notch, with coxa vara, the acetabulum and femoral head size asymmetry. Short ribs, sternum broad and thick. Scapular angle is not sharp, shallow glenoid and small. Treatment of common diseases is not difficult, in a typical case of water, and other reasons to be caused by differences between dwarf. cartilage development due to the whole (hypochondroplasia) Jurassic
Confucianism and the performance of achondroplasia is not obvious, the head is normal. cartilage - ectodermal dysplasia (chondro-ectodermaldysplasia), which EllisVan-Creveld syndrome, type of short limb dwarf, accompanied by chest deformities and heart attack, and pointed teeth, nail dysplasia. The site of limb shortening often occurs in the distal bone. spine - epiphyseal dysplasia (spondylo-epiphysealdysplasia). Is also a type of short limb dwarf, often proximal to the destruction of large joints, the normal skull, spinal vertebrae become flat, the anastomosis between vertebral ossification centers. Such as bell-shaped thoracic dysplasia. rickets and cretinism. Rickets had typical clinical and X-ray findings, is easy to tell; and cretinism is often accompanied by poor mental development. Green wine party 1 consists of: Fruit 50 grams, 500 grams of white wine. Usage: fruit and vegetable wash, set the bottle, add white wine, sealed 3 weeks, graded drinking, each 10 to 15 grams. Efficacy: pain qi and blood. Indications: achondroplasia, sustained recurrent local tenderness, palpable and proliferation organizers. Note: Fruit with pain and cold-dispelling effect of qi. folk prescription. Zhou Fang 2 Poria composition dates: Poria powder 30 grams, jujube 15, 150 grams of rice. Usage: Wash red dates, plus boiled to the bad; rice porridge, porridge poured red dates and time will become the soup, add Poria powder, then simmer for 20 minutes, add a little brown sugar, hot take. Efficacy: blood swelling. Indications: achondroplasia, marked by localized swelling and pain. Xia Xiang, et al. Family dietary tonic diet book. Shenyang: Liaoning Science and Technology Press, 2001,736 square 3 fresh toon toon fresh tofu tofu
Composed of fresh tofu Toon: To00 grams of fresh, Tofu 1, 5 grams of salt, sesame oil 5 ml. Usage: Wash fresh toon about open water hot, cool, cut into very fine, on the tofu, add sesame oil, salt, mix well after eating. Efficacy: pain relief priorities. Indications; achondroplasia, acute pain, local tenderness, tissue thickening. Note: Fresh toon bitter nature, anti-inflammatory pain. Xia Xiang, et al. Family dietary tonic diet book. Shenyang, Liaoning Science and Technology Press, 2001,736 square fennel soup 4 seaweed composition: 15 grams of kelp, seaweed 15 grams, 6 grams of cumin. Use: kelp, seaweed, fennel were washed, set the pot, add 500 ml of water, boil for 5 minutes, to fennel, soup, for taking 10 days. Efficacy: heat pain, soft solid. Indications: achondroplasia, cartilage at the tenderness, hyperplasia. Note: Kelp Ruanjian phlegm, diuresis Xiere; seaweed detoxification, Endometriosis. Xia Xiang, et al. Family dietary tonic diet book. Shenyang: Liaoning Science and Technology Press, 2001,159 square 5 kumquat wine consists of: kumquat 1,000 grams of rice wine 500 ml. Usage; kumquat washed, set the bottle, Garmisch wine, sealed l weeks, fractionated Beverage Service. Effects: Spleen Qi and relieve pain. Indications: achondroplasia is not associated with stomach and, Sternocostal tenderness, persons with poor appetite. Xia Xiang, et al. Family dietary tonic diet book. Shenyang: Liaoning Science and Technology Press, 2001,97 party drink Elsholtzia bergamot orange peel 6 gruel composed of: bergamot 50 grams, 50 grams Elsholtzia, 3 spoons of sugar. Usage: bergamot, Elsholtzia were washed, cut into pieces, set the pot, add 500 ml of water to open emergency heat and simmer 3 minutes, add sugar, fractionated Beverage Service. Efficacy: qi pain. Indications: costal cartilage inflammation unhealed pain for several months, recurrence, achondroplasia, local hyperplasia. Notes: Bergamot line gas pain, Elsholtzia Huashi water. folk prescription. Square root of 7 eggplant wine consists of: 100 grams of eggplant roots, white wine 500 ml. Usage: Wash eggplant root, set the bottle, add white wine, sealed for 3 weeks, split Beverage Service. Efficacy: heat swelling and pain. Indications: costal cartilage inflammation, severe pain, achondroplasia, local irritation, cough, especially those who play. Note: The eggplant roots have analgesic heat swelling. folk prescription. Orange gruel composed of square 8: Orange 30 grams, 50 grams of rice. Usage: Wash the orange peel, dried, crushed to fine, rice plus 500 ml of water, set the pot, to open emergency heat and simmer 5 minutes, add orange peel fine, Simmer for 30 minutes, into a porridge, served hot. Effects: Line gas pain, spleen appetite. Indications: stomach with achondroplasia and those who do not.


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