Collagen and Extraskeletal Disorder

Osteogenisis imperfecta (OI) is a r ar familial dis station of collagen synthesis associated with broad spectrum of musculoskeletal problems, some notably prow and fractures of the extremities, muscle weakness, ligamentous laxity, and spinal deformities. (Binder, 386). Other collagen-containing extraskeletal tissues, such as the sclerae, the teeth, and the heart valves be in any case touch to a variable class. OI has a common feature of bony fragility associated with defective formation of collagen by osteoblasts and fibroblasts. (Smith, 1983, 13)This illness, involving defective development of the connective tissues, is usually the result f the autosomal dominant gene, only when endure alike be the result of the autosomal recessive allele gene. Spontaneous mutations are common and the clinical presentation of the disease remains OI is nigh commonly referred to as brittle mug up, yet former(a) names include fragilitas ossium, hypolasia of the mesenchyme, and osteopsath yrosis.Osteogenisis imperfecta is still not completely understood, and spell at that place have been advances in diagnosing the disease, Osteogenisis imperfecta is the result of mutations In the round the bend dominantly inherited form of OI ( eccentric I), a non-functional allele for the alpha 1 (I) mountain chain halves ollagen synthesis, (Smith, 1995, 169) and is largely responsible for the inheritance. Single base mutations in the codon for glycine causes deadly (type II) OI by wrecking the formation of the collagen triple helix. faces collar and IV are the less dram- atic outcomes of similar glycine mutations in either the alpha 1 (I) or the alpha 2(I) The clinical signs rotter be caused from defective osteoblastic action mechanism and defective mesenchymal collagen (embryonic connective tissue) and its derivatives, such as sclera, attires, and ligaments. The reticulum fails to differentiate into shape up collagen or the collagen develops b normally. This causes immat ure and coarse fig up formation The signs and symptoms of OI vary greatly depending on the type.The most commonly used classification is the instance I is the mildest form of OI and is inherited as an autosomal dominant trait. The sclerae(middle coat of eyeball) is intelligibly blue. token I is broken down into IA and IB the difference universe whether dentinogenesis is present. IA has a life expectancy nearly the same as the general public. The natural activity is contain, and whitethorn start to have no disability at all. The bones have a mottled or wormian appearance, forming small islands. Type II is lethal in utero or shortly there after(prenominal)birth.The survivors put up from just a few hours to several months. The kayotypes of parents are usually normal. This type is broken down into three subgroups IIA is characterized by a broad, crumpled femora and continuos roast beading, IIB by minimal to no rib fractures, and IIC by a fragile femora and ribs with ex ecst asysive fracturing. While in the uterus, there is forgetful fetal movement, little fetal weight, poor ossification of the fetal skeleton, hypoplastic lungs, the foresighted bones of the stop number and lower limbs are shortened or deformed, and the head is soft.Intrauterine fractures ccur, and parinatal wipeout is usually from intracranial hemorrhage due to vessel fragility or respiratory di sieve from pulmonary hypoplasia. The bones and other tissues are spicyly fragile, and massive injuries occur in utero or delivery. The ribs appear beaded or broken and the long Type III and IV are negociate in severity between types I and II. Type III differs from I in its greater severity, and from IV in that it increases in severity with age. It can be inherited as either a autosomal recessive or dominant trait.The sclerae is only slightly bluish in early electric shaverhood and white in adulthood, although the average life xpectancy is 25 years. Type IV is always dominant. With types III and IV multiple fractures from minor physical stress occurs leading to progressive and severe deformities. Kyphoscoliosis may cause respiratory stultification and predisposition to pulmonary infections. Popcorn-like deposits of mineral appear on the ends of long bones. The symptoms of OI tarde (types I, III and IV) can appear when the boor begins to walk, and lessens with age. The tendency to fracture decreases and often disappears after puberty.Later in life, affairicularly during pregnancy and after menopause, more than fractures occur. The bones are usually slender with short, thin cortices and trabeculae (fibers of framework), only if can excessively be unusually thin. (Smith, 1983, 136) Narrow diaphysis of the long bones contri onlyes to the fractures and bowing deformities. Scoliosis is common. The haversian cells are poorly developed. The bones lack minerals necessitate to form bone matrix. Epiphyseal fractures (end of the bone) results in deformities and stunted growth (dwarfism). Osteopenia, the decrease in bone mass, is symptomatic.Other signs of OI include hyperextensibility of the joints double-jointedness and unnaturally thin, translucent skin. Discolored (blue-gray or yellow-brown) and malformed teeth which break easily and are cavity prone are ensnare in patients Patients with OI have a triangular-shaped head and face, a bilaterally change shape skull, and prominent eyes with a wide distance between the blase region. Hearing loss by the age of 30-40 is the result of the pressure on the auditory nerve because of the deformity of its canal in the skull, and the development of otosclerosis. recurrent epistaxis (nosebleeds), bruising and edema (especially at the sight of fractures), difficulty tolerating high temperatures and mild hyperpyrexia are other symptoms. Thoracic deformities may impair actors assistant expansion and the ability to effectively breath deeply and cough. (Loeb, 755) Patients are also more susceptible to infect ion. In assessing a patient data is needed about the genetic history and birth of the child, as well as a complete development assessment from birth. Vital signs are taken, and periods of increase heart and respiratory rate and elevated body temperature are note- worthy. jumble should be examined for color, elasticity, translucency, and signs of edema and bruising. A description of position and appearance of a childs trunk and extremities and facial characteristics should be noted. The height of the child in terms of judge growth, signs of scoliosis or laxity of ligaments, and range of work of the joints are all important. Sight and hearing should be tested since there are sensory problems associated with OI. The appearance of the sclerae and tympanic membranes and defects of primary teeth and gums are important. (Jackson, X-rays usually reveal a decrease in bone density. in that respect is no consensus, however, as to whether the diagnosis can be made by microscopy of bone specim ens. (Isselbacher, 2112) DNA sequencing and incubating skin fiboblasts are two ways inspection and repair diagnose OI. Prenatal ultrasonography is used to detect hard affected fetuses at about 16 weeks of pregnancy. Diagnosis of the lethal type II by ultrasound during the second trimester of pregnancy is by the identification of fractures of the long bones. Compression of the fetal head is seen by ultrasound probe, and low echogeneity of the cranium can be signs of skeletal dysplasia (faulty development of the tissues).Diagnosis is confirmed by postmortem examination including radiography and biochemical studies of cultivated fibroblasts from the fetus. (Berge, 321) Diagnosis by analyzing DNA sequencing can be carried out in chronic villa in that respect is no known treatment of OI at this time. Treatment therefore is predominantly bindive and educational. Because of multiple fractures and bruising, it is important to diagnose this disease in order to prevent Treatment of fra ctures is often challenging because of abnormal bone social organization and laxity of the ligaments. Splinting devices are used to stabilize the bones and to protect against special fractures.Treatment aims to prevent deformities through use of traction and/or immobilizing in order to aid in normal development and rehabilitation. weapon system deformities and repeated fractures can e corrected by intramedullary rods telescoping rods that elongate with growth. subsequently surgical placement of the rods, extensive post- operative care is required because greater amounts of blood and fluid are lost. (Loeb, 755) It should be noted that the healing of fractures appear to be normal. (Isselbacher, 2112) Braces, immobilizing devices and corporeal therapy is important in the treatment of OI. debone fracture density in unfractured bone is decreased when compared with age-matched controls due to take a hoped exercise, so it is essential to stay as sprightly as possible. Physical the rapy is also used for attitudeening muscle and reventing disuse fractures with exercises with light steadfast dental visits are necessary to monitor the ogists for vision and audiologits for hearing is also essential. Radiologists need to examine the structure and density of the bones, and an orthopedist is needed to congeal fractures and take care of other bone related problems.Counseling and steamy support is needed for both the patient and the family. It is important not to limit a child because of his/her disabilities, and to realize that many victims of this disease live favored lives. Debrah Morris, a successful business woman, and active fighter for isability rights and supportering other patients of OI, says, If I had the choice to be anyone in the world, I would be incisively who I am. The people I have met, the challenges I have faced, the opportunities that I have been presented all are directly related to dealing with being a little person with brittle bones. (Ka sper, 53)Many of the symptoms of OI can be confused with those of a battered child. X-rays are used to show render of old fractures and bone deformities to distinguish the difference. The Osteogenesis Imperfecta Foundation (OIF) has is a national support group that offers assistance to families in this osition and to increase public awareness. The OIF has a aesculapian advisory council, chapters, support groups, regional meetings, biennial national conferences, and parent contacts to help families feeling alone and helpless.They also publish a newsletter, provide literary works and videos about OI, and sponsors a fund to support research. Magnesium oxide can be administered to decrease the fracture rate, as well as hyperpyrexia and constipation associated with this condition. (Anderson, 1127) A high-protein, high-carbohydrate, high-vitamin diet is needed to promote healing. A growth hormone has also been dministered during childhood, and is shown to substantially increase growth. Treatment with bisphosphorates and related agents has been discussed to decrease bone loss, but no controlled studies have been done. Isselbacher, 2113) Since there is no cure for oseogenesis imperfecta, appropriate and powerful timed rehabilitation intervention is of the utmost importance to ensure that the child is able to function to the take up of his/her ability in society. A ten year study that was submitted in 1992 proves this. 25 of 115 children with severe OI were sight since birth or infancy at the National Institutes of Health, MD and the pinched Dysplasia Clinic at the Childrens National Medical Center in D. C. bingle was Type I, two Type II, nine Type III, and thirteen Type IV.They were classified by physical characteristics and functional Group A consisted of those who were severely dwarfed with large heads and marked bowing , contractures, and weakness of extremities. The highest functional skill expected was independent sitting. Group B was growth deficient, but with a normal sized head. Femoral bowing, scoliosis, and contractures of the hip flexors were characteristics. they were expected to stand and/or walk with braces. Group C were less growth deficient, and had broad(a) strength, but poor endurance.They had marked joint laxity and poorly aligned lower intent joints, but Group A patients were the most severely involved. Most were fundamentally sitters. The majority were totally dependent in their self care. Group B had the potential to become at least short-distance ambulators. These patients had acquired the ability to move to sitting, but had transitional moving problems, such as sitting to standing. ially independent in their self care. Group C had antigravity strength and 50% had good strength in their extremities. All were physically active and age-appropriately independent, but none were good long-distance walkers. Binder, 387-388)Progressive rehabilitation of these groups all included mold exercises and active range of motio n and strengthing exercises. Group B had additional ROM and posture exercises, as well as Developmental exercises. Group C added coordination activities. Conclusion, trouble of patients with OI should address the childs functional needs. Even though the degree of disability may be severe, management should not be particular to orthopedic procedures and bracing. Treatment lanning should be considered, but not totally ground on genetic, anatomical, and biochemical abnormalities.Our ence suggests that clinical grouping based in part on functional potential can be useful in the appropriate management of children with OI. (Binder, 390) Independence was stressed in this study, and even patients with special(a) sitting ability, upper extremity function can be modify to at least minimal independence in self-help skills. Potential ambulators should be helped because, although their ability might not progress past indoor ambulation, paseo will make them more independent and may result i n ncreased bone mineralization.Poor joint alignment, poor balance, and low endurance can all be improved with persistent, individualized physical and occupational therapy. For best results, therapy should be started as soon after birth as possible. Mainstreaming take aged children is also important. All of this together leads to age-appropriate social development and markedly improved independence and quality of life in the majority of Osteogenesis imperfecta is the most common genetic disorder of the bone. It occurs in about 1 in 20,000 live births, and is equally prevalent in all races and both sexes.The Type I OI has a population frequency of about 1 in 30,000. Type II has a birth incidence of about 1 in 60,000. Types III and IV are less common and may be as high as 1 in 20,000. (Isselbacher, 2111) The fact of OI in families with no history or blue sclerae is about 1 in 3,000,000 births. (Smith, 1995, 171) The recurrence risks in families is estimated to be 6 to 10%, but is onl y estimated because most couples choose not to have any more children. 15 to 20% of patients with OI do not carry the gene for abnormal collagen, making many wonder if there is yet another genetic problem undiagnosed at this time.