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Because kniest dysplasia can affect various body systems, treatments can vary between non-surgical and surgical treatment. Patients will be monitored over time, and treatments will be provided based on the complications that arise.
Like treatment options, the prognosis is dependent on the severity of the symptoms. Despite the various symptoms and limitations, most individuals have normal intelligence and can lead a normal life.
Symptomatic individuals should be seen by an orthopedist to assess the possibility of treatment (physiotherapy for muscular strengthening, cautious use of analgesic medications such as nonsteroidal anti-inflammatory drugs). Although there is no cure, surgery is sometimes used to relieve symptoms. Surgery may be necessary to treat malformation of the hip (osteotomy of the pelvis or the collum femoris) and, in some cases, malformation (e.g., genu varum or genu valgum). In some cases, total hip replacement may be necessary. However, surgery is not always necessary or appropriate.
Sports involving joint overload are to be avoided, while swimming or cycling are strongly suggested. Cycling has to be avoided in people having ligamentous laxity.
Weight control is suggested.
The use of crutches, other deambulatory aids or wheelchair is useful to prevent hip pain. Pain in the hand while writing can be avoided using a pen with wide grip.
There is currently no cure for pseudoachondroplasia. However, management of the various health problems that result from the disorder includes medications such as analgesics (painkillers) for joint discomfort, osteotomy for lower limb deformities, and the surgical treatment of scoliosis. Prevention of some related health problems includes physical therapy to preserve joint flexibility and regular examinations to detect degenerative joint disease and neurological manifestations (particularly spinal cord compression). Additionally, healthcare providers recommend treatment for psychosocial issues related to short stature and other physical deformities for both affected individuals and their families (OMIM 2008).
Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course. Intravenous bisphosphonates may be helpful for treatment of bone pain, but there is no clear evidence that they strengthen bone lesions or prevent fractures. Surgical techniques that are effective in other disorders, such as bone grafting, curettage, and plates and screws, are frequently ineffective in fibrous dysplasia and should be avoided. Intramedullary rods are generally preferred for management of fractures and deformity in the lower extremities. Progressive scoliosis can generally be managed with standard instrumentation and fusion techniques. Surgical management in the craniofacial skeleton is complicated by frequent post-operative FD regrowth, and should focus on correction of functional deformities. Prophylactic optic nerve decompression increases the risk of vision loss and is contraindicated.
Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. Untreated hypophosphatemia increases bone pain and risk of fractures.
There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia.
Non-surgical interventions include three elements: weight control, exercise control, and medication. Canine massage may alleviate discomfort and help move lymph and nutrients through the system. Weight control is often "the single most important thing that we can do to help a dog with arthritis", and consequentially "reducing the dog's weight is enough to control all of the symptoms of arthritis in many dogs". Reasonable exercise stimulates cartilage growth and reduces degeneration (though excessive exercise can do harm too), and also regular long walks in early or mild dysplasia can help prevent loss of muscle mass to the hips. Medication can reduce pain and discomfort, and also reduce damaging inflammation.
Non-surgical intervention is usually via a suitable non-steroidal anti-inflammatory drug (NSAID) which doubles as an anti-inflammatory and painkiller. Typical NSAIDs used for hip dysplasia include carprofen and meloxicam (often sold as Rimadyl and Metacam respectively), both used to treat arthritis resulting from dysplasia, although other NSAIDs such as tepoxalin (Zubrin) and prednoleucotropin ("PLT", a combination of cinchophen and prednisolone) are sometimes tried. NSAIDs vary dramatically between species as to effect: a safe NSAID in one species may be unsafe in another. It is important to follow veterinary advice.
A glucosamine-based nutritional supplement may give the body additional raw materials used in joint repair. Glucosamine can take 3–4 weeks to start showing its effects, so the trial period for medication is usually at least 3–5 weeks. In vitro, glucosamine has been shown to have negative effects on cartilage cells.
It is also common to try multiple anti-inflammatories over a further 4–6 week period, if necessary, since an animal will often respond to one type but fail to respond to another. If one anti-inflammatory does not work, a vet will often try one or two other brands for 2–3 weeks each, also in conjunction with ongoing glucosamine, before concluding that the condition does not seem responsive to medication.
Carprofen, and other anti-inflammatories in general, whilst very safe for most animals, can sometimes cause problems for some animals, and (in a few rare cases) sudden death through liver toxicity. This is most commonly discussed with carprofen but may be equally relevant with other anti-inflammatories. As a result, it is often recommended to perform monthly (or at least, twice-annually) blood tests to confirm that the animal is not reacting adversely to the medications. Such side effects are rare but worth being aware of, especially if long-term use is anticipated.
This regimen can usually be maintained for the long term, as long as it is effective in keeping the symptoms of dysplasia at bay.
Some attempts have been made to treat the pain caused by arthritic changes through the use of "laser therapy", in particular "class IV laser therapy". Well-controlled clinical trials are unfortunately lacking, and much of the evidence for these procedures remains anecdotal.
The disorder is progressive, with the ultimate severity of symptoms often depending on age of onset. In severe cases amputation has been performed when conservative measures such as physical therapy and regional anesthetics have been ineffective.
Mesenchymal stem cells (MSCs) have been used for a number of years to treat osteoarthritis. Their use has mostly been autologous (self); used fresh (in the form of a mixed cell population mainly sourced from adipose tissue), or expanded in number via culture; or allogeneic (non-self). The majority of their action via a paracrine effect, and hence the route of administration has been mostly via intra-articular injection. In vitro, this paracrine effect has been shown to enhance type II collagen expression in OA chondrocytes while decreasing matrix metalloproteinase activity (MMP-3 and MMP-13). In clinical cases, this has been shown via their anti-inflammatory/pain relieving effects. Dogs treated with adipose derived stem cell therapy have had significantly improved scores for lameness and compiled scores for pain and range of motion compared with control dogs. Other randomised studies have shown similar improved results with functional limitation, range of motion, and owner and veterinary investigator visual analogue scale for pain all showing improvement. Beyond this, significant improvements in MSC treated animals as measured by peak vertical force and vertical impulse in force platform have been observed.
Patient-side autologous therapy in the US is subject to change. New guidance issued (FDA#218 Guidance for Industry - Cell-Based Products for Animal Use) will likely require stem cell therapy to be produced via cGMP. Resources required to implement these changes may change the US veterinary stem cell industry more towards a hub and spoke approach or towards allogeneic therapy, and away from patient-side therapy.
People with Pyle disease are often asymptomatic. Dental anomalies may require orthodontic interventions. Skeletal anomalies may require orthopedic surgery.
Conservative therapies include NSAIDs, pain medication, weight management and exercise restriction. The problems with these therapies is that they do not work well, especially long-term.
Early hip dysplasia can often be treated using a Pavlik harness (see photograph) or the Frejka pillow/splint in the first year of life with usually normal results. Complications can occur when using the Pavlik Harness. Cases of Femoral Nerve Palsy and Avascular Necrosis of the femoral head have been reported with the use of the Pavlik harness, but whether these cases were due to improper application of the device or a complication encountered in the course of the disorder remains unresolved. Complications arise mainly because the sheet of the iliopsoas muscle pushes circumflex artery against the neck of the femur and decreases blood flow to the femoral head, so the Frejka pillow is not indicated in all the forms of the developmental dysplasia of the hip.
Other devices employed include the spica cast, particularly following surgical closed reduction, open reduction, or osteotomy in babies and young children. Traction is sometimes used in the weeks leading up to a surgery to help stretch ligaments in the hip joint, although its use is controversial and varies amongst physicians.
In older children the adductor and iliopsoas muscles may have to be treated surgically because they adapt to the dislocated joint position (contracture).
Braces and splints are often used following either of these methods to continue treatment.
Although some children "outgrow" untreated mild hip dysplasia and some forms of untreated dysplasia cause little or no impairment of quality of life, studies have as yet been unable to find a method of predicting outcomes. On the other hand, it has often been documented that starting treatment late leads to complications and ends in poor results.
In cases of a minor deviation of the wrist, treatment by splinting and stretching alone may be a sufficient approach in treating the radial deviation in RD. Besides that, the parent can support this treatment by performing passive exercises of the hand. This will help to stretch the wrist and also possibly correct any extension contracture of the elbow. Furthermore, splinting is used as a postoperative measure trying to avoid a relapse of the radial deviation.
The elbow is a complex joint, bears 60% of body load, and tolerates problems less well than the hips. As a result, elbow replacement is more complex than hip replacement, rehabilitation can take significantly longer, and some degree of lameness will remain. The surgery is classified as of 2010 as a "salvage" operation - that is, a last resort for an otherwise viable animal. Success rates of around 80 - 85% (approximately 5 in 6) were being discussed by sources in 2005 and again in 2008.
There are also fewer options if the replacement fails, the main option being arthrodesis (surgical fusion of the joint) which results in a pain-free but lame gait. However arthrodesis is itself a complex surgery with a long recovery time, and if arthrodesis is required, additional strain will be borne by other nearby joints, so other leg and shoulder conditions such as osteoarthritis may become more significant.
In 2012, Dr. Kirk Wendelburg, DVM, founder of Animal Specialty Group (ASG) in Los Angeles, collaborated with Swiss veterinary technology company, Kyon, to design an advanced elbow replacement system. This new system maintains the normal range of motion through the sagittal plane, around a normal center of rotation, while allowing normal supination and pronation. The compact design has no mechanical linkages between the elbow compartments, significantly reducing undue stresses which may lead to early failure. Dr. Wendelburg also invented the implantational procedure for the prosthesis. This repeatable, highly advanced procedure also allows the surgeon to make an intraoperative decision on whether a total or partial elbow replacement is needed. For example, a dog with only medial compartment disease may only receive a partial replacement. This intraoperative flexibility is possible due to the modular design of the implant. The system invented by Dr. Wendelburg is the first and only to allow for a, "Biomechanically Anatomical, Nonconstrained, Compartmental (BANC) Elbow Arthroplasty."
More severe types (Bayne type III en IV) of radial dysplasia can be treated with surgical intervention. The main goal of centralization is to increase hand function by positioning the hand over the distal ulna, and stabilizing the wrist in straight position. Splinting or soft-tissue distraction may be used preceding the centralization.
In classic centralization central portions of the carpus are removed to create a notch for placement of the ulna. A different approach is to place the metacarpal of the middle finger in line with the ulna with a fixation pin.
If radial tissues are still too short after soft-tissue stretching, soft tissue release and different approaches for manipulation of the forearm bones may be used to enable the placement of the hand onto the ulna. Possible approaches are shortening of the ulna by resection of a segment, or removing carpal bones. If the ulna is significantly bent, osteotomy may be needed to straighten the ulna. After placing the wrist in the correct position, radial wrist extensors are transferred to the extensor carpi ulnaris tendon, to help stabilize the wrist in straight position. If the thumb or its carpometacarpal joint is absent, centralization can be followed by pollicization. Postoperatively, a long arm plaster splinter has to be worn for at least 6 to 8 weeks. A removable splint is often worn for a long period of time.
Radial angulation of the hand enables patients with stiff elbows to reach their mouth for feeding; therefore treatment is contraindicated in cases of extension contracture of the elbow. A risk of centralization is that the procedure may cause injury to the ulnar physis, leading to early epiphyseal arrest of the ulna, and thereby resulting in an even shorter forearm. Sestero et al. reported that ulnar growth after centralization reaches from 48% to 58% of normal ulnar length, while ulnar growth in untreated patients reaches 64% of normal ulnar length. Several reviews note that centralization can only partially correct radial deviation of the wrist and that studies with longterm follow-up show relapse of radial deviation.
Osteofibrous dysplasia is treated with marginal resection with or without bone grafting, depending on the size of the lesion and the extent of bony involvement. However, due to the high rate of recurrence in skeletally immature individuals, this procedure is usually postponed until skeletal maturity.
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses and metaphyses). This type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, types II and XI.
The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder. Beginning in childhood, the two conditions can be distinguished in X-ray images by changes in areas near the ends of bones (metaphyses). These changes are characteristic of spondyloepimetaphyseal dysplasia, Strudwick type.
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving "PAPSS2" (also known as "ATPSK2"). The condition is rare.
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.
Diastrophic dysplasia (DTD) 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.
Treatment of manifestations: special hair care products to help manage dry and sparse hair; wigs; artificial nails; emollients to relieve palmoplantar hyperkeratosis.
Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective.
Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.
Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage.