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A study measured outcome from surgery of 49 cases of scoliosis and kyphoscoliosis. Of this sample, 36 patients were monitored for a period of 8 years.
- 23% - excellent condition
- 29% - good condition
- 34% - satisfactory
- 14% - bad
Bad refers to cases where the surgery failed to address the disease and the patient either had to undergo a revision surgery or continues to suffer from a poor quality of life as before surgery.
It should be noted that typically post-surgery complications range up to 5% involving all major and minor complications when measured within one year of surgery. However, there may be a progressive decline in patient’s condition after a few years.
In another study that evaluated surgical treatment of kyphoscoliosis and scoliosis due to congenital reasons, 91% of surgeries were found to be successful and met their intended objectives for the two-year follow-up period after surgery. The sample consisted of 23 patients of whom 17 were male and 6 were female, with an average age of 27 years, ranging from 13 to 61 years. The most popular type of surgeries for spinal correction includes pedicle subtraction osteotomy (PSO) and posterior vertebral column resection (pVCR).
Another study which focused on elderly patients found that the rate of complications was much higher for a sample population of 72 cases with mean age of 60.7 years. The rate of complications was as high as 22% in the entire sample. The study points that in the case of elderly patients, surgery should only be considered when there is no other option left; the disease is in progression stage, and the quality of life has degraded to an extent where conservative treatments can no longer help with pain.
While there are many surgical approaches for spinal deformity correction including anterior only, posterior only, anterior-posterior, the techniques that are most popular nowadays include the posterior only VCR or pVCR. One of the studies which analyze pVCR technique also noted the benefit of using a technique called NMEP monitoring in assisting the surgeon avoid any neurological complications while performing a spine surgery.
In conclusion, the decision to undergo a corrective spine surgery is a complex one but sometimes becomes necessary when the quality of life has degraded to such an extent that potential benefits outweigh the risks. No surgery is devoid of risks but by carefully assessing factors such as the skills and experience of the surgical team, previous record or history of outcomes, and the techniques that are used for spine surgery, a patient along with his or her doctor can certainly help in achieving a successful outcome.
As studies are repeatedly pointing out, the success rates for spinal surgeries have improved so much so that the risks rates can now be comparable to other types of surgeries. These success rates also tend to be higher at a younger age when compared to the elderly age.
Probably, the most well-known teratogenic drug is thalidomide. It was developed near the end of the 1950s by Chemie Grűnenthal as a sleep inducing aid and antiemetic. Because of its ability to prevent nausea it was prescribed for pregnant women in almost 50 countries worldwide between 1956–1962. Until William McBride published the study leading to its withdrawal from the market at 1961, about 8- 10 000 severely malformed children were born. The most typical disorder induced by thalidomide were reductional deformities of the long bones of the extremities. Phocomelia otherwise a rare deformity, which therefore helped to recognise the teratogenic effect of the new drug. Among other malformations caused by thalidomide were those of ears, eyes, brain, kidney, heart, digestive and respiratory tract. 40% of the prenatally affected children died soon after birth. As thalidomide is used today as a treatment for multiple myeloma and leprosy, several births of affected children were described in spite of the strictly required use of contraception among female patients treated by it.
Vitamin A, or retinol, is the sole vitamin which is embryotoxic even in a therapeutic dose, for example in multivitamins, because its metabolite, the retinoic acid, plays an important role as a signal molecule in the development of several tisues and organs. Its natural precursor, the β-carotene, is considered safe, whereas the consumption of animal liver can lead to malformation, as the liver stores lipophile vitamins, including retinol. Isotretinoin (13-cis-retinoic-acid; brand name Roaccutane), vitamine A analog, which is often used to treat severe acne, is such a strong teratogen that just a single dose taken by a pregnant woman (even transdermally) may result in serious birth defects. Because of this effect, most countries have systems in place to ensure that it is not given to pregnant women, and that the patient is aware of how important it is to prevent pregnancy during and at least one month after treatment. Medical guidelines also suggest that pregnant women should limit vitamin A intake to about 700 μg/day, as it has teratogenic potential when consumed in excess. Vitamine A and similar substances can induce spontaneous abortions, premature births, defects of eyes (microphthalmia), ears, thymus, face deformities, neurological (hydrocephalus, microcephalia) and cardiovascular defects, as well as mental retardation.
Tetracycline, an antibiotic, should never be prescribed to women in the reproductive age or children, because of its negative impact on bone mineralization and teeth mineralization. The "tetracycline teeth" have brown or grey colour as a result of a defective development of both the dentine and the enamel of teeth.
Several anticonvulsants are known to be highly teratogenic. Phenytoin, also known as diphenylhydantoin, along with carbamazepine is responsible for the fetal hydantoin syndrome, which may typically include broad nose base, cleft lip and/or palate, microcephalia, nails and fingers hypoplasia, intrauterine growth restriction and mental retardation. Trimethadione taken during pregnancy is responsible for the fetal trimethadione syndrome, characterized by craniofacial, cardiovascular, renal and spine malformations, along with a delay in mental and physical development. Valproate has anti-folate effects, leading to neural tube closure-related defects such as spina bifida. Lower IQ and autism have recently also been reported as a result of intrauterine valproate exposure.
Hormonal contraception is considered as harmless for the embryo. Peterka and Novotná do however state that syntethic progestines used to prevent miscarriage in the past frequently caused masculinization of the outer reproductive organs of female newborns due to their androgenic activity. Diethylstilbestrol is a synthetic estrogen used from the 1940s to 1971 when the prenatal exposition has been linked to the clear-cell adenocarcinoma of the vagina. Following studies showed elevated risks for other tumors and congenital malformations of the sex organs for both sexes.
All cytostatics are strong teratogens, abortion is usually recommended when pregnancy is found during or before chemotherapy. Aminopterin, a cytostatic drug with anti-folate effect, was used during the 1950s and 1960s to induce therapeutic abortions. In some cases the abortion didn´t happen, but the newborns suffered a fetal aminopterin syndrome consisting of growth retardation, craniosynostosis, hydrocephalus, facial dismorphities, mental retardation and/or leg defomities
There are links between human spinal morphology, bipedality, and scoliosis which suggest an evolutionary basis for the condition. Scoliosis has not been found in chimpanzees or gorillas. Thus, it has been hypothesized that scoliosis may actually be related to humans’ morphological differences from these apes. Other apes have a shorter and less mobile lower spine than humans. Some of the lumbar vertebrae in Pan are "captured", meaning that they are held fast between the ilium bones of the pelvis. Compared to humans, Old World monkeys have far larger erector spinae muscles, which are the muscles which hold the spine steady. These factors make the lumbar spine of most primates less flexible and far less likely to deviate than those of humans. While this may explicitly relate only to lumbar scolioses, it is possible that small imbalances in the lumbar spine could precipitate thoracic problems as well.
Scoliosis may be a byproduct of strong selection for bipedalism. For a bipedal stance, a highly mobile, elongated lower spine is very beneficial. For instance, the human spine takes on an S-shaped curve with lumbar lordosis, which allows for better balance and support of an upright trunk. Selection for bipedality was likely strong enough to justify the maintenance of such a disorder. Bipedality is hypothesized to have emerged for a variety of different reasons, many of which would have certainly conferred fitness advantages. It may increase viewing distance, which can be beneficial in hunting and foraging as well as protection from predators or other humans; it makes long distance travel more efficient for foraging or hunting; and it facilitates terrestrial feeding from grasses, trees, and bushes. Given the many benefits of bipedality which depends on a particularly formed spine, it is likely that selection for bipedalism played a large role in the development of the spine as we see it today, in spite of the potential for "scoliotic deviations". According to the fossil record, scoliosis may have been more prevalent among earlier hominids such as Australopithecus and Homo erectus, when bipedality was first emerging. Their fossils indicate that there may have been selection over time for a slight reduction in lumbar length to what we see today, favoring a spine that could efficiently support bipedality with a lower risk of scoliosis.
Surgery
Surgical intervention is warranted in patients who present with new onset neurological signs and symptoms or have a history of progressive neurological manifestations which can be related to this abnormality. The surgical procedure required for the effective treatment of diastematomyelia includes decompression (surgery) of neural elements and removal of bony spur. This may be accomplished with or without resection and repair of the duplicated dural sacs. Resection and repair of the duplicated dural sacs is preferred since the dural abnormality may partly contribute to the "tethering" process responsible for the symptoms of this condition.
Post-myelographic CT scanning provides individualized detailed maps that enable surgical treatment of cervical diastematomyelia, first performed in 1983.
Observation
Asymptomatic patients do not require surgical treatment. These patients should have regular neurological examinations since it is known that the condition can deteriorate. If any progression is identified, then a resection should be performed.
Congenital vertebral anomalies are a collection of malformations of the spine. Most around 85% are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae.
The cost of scoliosis involves both monetary losses and lifestyle limitations that increase with severity. Respiratory deficiencies may also arise from thoracic deformities and cause abnormal breathing. This directly affects exercise and work capacity, decreasing the overall quality of life.
In the health care system of the United States, the average hospital cost for cases involving surgical procedures was $30,000 to $60,000 per patient in 2010. As of 2006, the cost of bracing has been published as up to $5,000 during rapid growth periods, when braces must be consistently replaced across multiple follow-ups.
Diastematomyelia (occasionally diastomyelia) is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra.
Diastematomyelia is a rare congenital anomaly that results in the "splitting" of the spinal cord in a longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous (bone), cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as a diplomyelia, or true duplication of the spinal cord.
Substances whose toxicity can cause congenital disorders are called "teratogens", and include certain pharmaceutical and recreational drugs in pregnancy as well as many environmental toxins in pregnancy.
A review published in 2010 identified 6 main teratogenic mechanisms associated with medication use: folate antagonism, neural crest cell disruption, endocrine disruption, oxidative stress, vascular disruption and specific receptor- or enzyme-mediated teratogenesis.
It is estimated that 10% of all birth defects are caused by prenatal exposure to a teratogenic agent. These exposures include, but are not limited to, medication or drug exposures, maternal infections and diseases, and environmental and occupational exposures. Paternal smoking use has also been linked to an increased risk of birth defects and childhood cancer for the offspring, where the paternal germline undergoes oxidative damage due to cigarette use. Teratogen-caused birth defects are potentially preventable. Studies have shown that nearly 50% of pregnant women have been exposed to at least one medication during gestation. During pregnancy, a female can also be exposed to teratogens from the contaminated clothing or toxins within the seminal fluid of a partner. An additional study found that of 200 individuals referred for genetic counseling for a teratogenic exposure, 52% were exposed to more than one potential teratogen.
Potential non-surgical treatments include:
- Education about the course of the condition and how to relieve symptoms
- Medicines to relieve pain and inflammation, such as acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs)
- Exercise, to maintain or achieve overall good health, aerobic exercise, such as riding a stationary bicycle, which allows for a forward lean, walking, or swimming can relieve symptoms
- Weight loss, to relieve symptoms and slow progression of the stenosis
- Physical therapy, to provide education, instruction, and support for self-care; physical therapy instructs on stretching and strength exercises that may lead to a decrease in pain and other symptoms
Treatment for Klippel–Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis.
Failing non-surgical therapies, spinal surgery may provide relief. Adjacent segment disease and scoliosis are two examples of common symptoms associated with Klippel–Feil syndrome, and they may be treated surgically. The three categories treated for types of spinal cord deficiencies are massive fusion of the cervical spine (Type I), the fusion of 1 or 2 vertebrae (Type II), and the presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel–Feil syndrome (Type III).
Adjacent segment disease can be addressed by performing cervical disc arthroplasty using a device such as the Bryan cervical disc prosthesis.
The option of the surgery is to maintain range of motion and attenuate the rate of adjacent segment disease advancement without fusion.
Another type of arthroplasty that is becoming an alternate choice to spinal fusion is Total Disc Replacement. Total disc replacement objective is to reduce pain or eradicate it.
Spinal fusion is commonly used to correct spinal deformities such as scoliosis. Arthrodesis is the last resort in pain relieving procedures, usually when arthroplasties fail.
Kyphoscoliosis may manifest in an individual at different stages of life and for various causes. When present at a young age ranging from childhood to teenage, Kyphoscoliosis may be present from birth due to congenital abnormalities including Spina bifida.
In a few cases, it may also be the result of keeping an abnormal posture or slouching for a prolonged period which causes an abnormal curvature of the spine.
Certain infections can also lead to the development of Kyphoscoliosis such as vertebral tuberculosis or general tuberculosis. Osteochondrodysplasia, a disorder related to the development of bone and cartilage, can also cause this disease.
In later ages, Kyphoscoliosis can occur in patients suffering from chronic degenerative diseases like osteoporosis and Osteoarthritis. This type of incidence is usually seen in patients above 50+ years of age and is mainly attributed to structural changes in the spine and adjoining tissues. Sometimes, a traumatic injury can also lead to its development.
Further, there are many idiopathic occurrences of Kyphoscoliosis where the exact cause is not very well known but is suspected to be caused by genetic factors.
Potential surgical treatments include:
- Anterior cervical discectomy and fusion - A surgical treatment of nerve root or spinal cord compression by decompressing the spinal cord and nerve roots of the cervical spine with a discectomy in order to stabilize the corresponding vertebrae.
- Laminoplasty - A surgical procedure relieve pressure on the spinal cord by cutting the lamina on both sides of the affected vertebrae (cutting through on one side and merely cutting a groove on the other) and then "swinging" the freed flap of bone open.
- Laminectomy - A surgical procedure in which the lamina of the vertebra is removed or trimmed to widen the spinal canal and create more space for the spinal nerves and thecal sac.
Spina bifida is characterized by a midline cleft in the vertebral arch. It usually causes no symptoms in dogs. It is seen most commonly in Bulldogs and Manx cats. In Manx it accompanies a condition known as sacrocaudal dysgenesis that gives these cats their characteristic tailless or stumpy tail appearance. It is inherited in Manx as an autosomal dominant trait.
The heterogeneity of the Klippel–Feil syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic cause of the syndrome.
The prognosis for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
Body braces showed benefit in a randomised controlled trial.
The Milwaukee brace is one particular body brace that is often used to treat kyphosis in the US. Modern CAD/CAM braces are used in Europe to treat different types of kyphosis. These are much easier to wear and have better in-brace corrections than reported for the Milwaukee brace. Since there are different curve patterns (thoracic, thoracolumbar and lumbar), different types of brace are in use, with different advantages and disadvantages.
A diagnosis of kyphosis is generally made through observation and measurement. Idiopathic causes, such as vertebral wedging or other abnormalities, can be confirmed through X-ray. Osteoporosis, a potential cause of kyphosis, can be confirmed with a bone density scan. Postural thoracic kyphosis can often be treated with posture reeducation and focused strengthening exercises. Idiopathic thoracic kyphosis due to vertebral wedging, fractures, or vertebral abnormalities is more difficult to manage, since assuming a correct posture may not be possible with structural changes in the vertebrae. Children who have not completed their growth may show long-lasting improvements with bracing. Exercises may be prescribed to alleviate discomfort associated with overstretched back muscles. A variety of gravity-assisted positions or gentle traction can minimize pain associated with nerve root impingement. Surgery may be recommended for severe idiopathic kyphosis.
Animal studies have shown that administration of the drugs vinblastine, streptonigrin, triparano, sulfonamide, tetracycline, antihistamines, and antitumor agents to pregnant mothers have resulted in offspring born with iniencephaly. The drug clomiphene, a drug commonly used for ovulation stimulation in fertility treatments, has also been seen to be associated with iniencephaly.
Pregnant mothers are advised to take folic acid supplements to reduce risk of iniencephaly by up to 70%. Pregnant mothers are also advised not to take antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, all of which have been associated with increased risk for neural tube defects.
There are four levels (or "types") of malformation. The least severe indicates partial deformation (unilateral) of the sacrum. The second level indicates a bilateral (uniform) deformation. The most severe types involve a total absence of the sacrum.
Depending on the type of sacral agenesis, bowel or urinary bladder deficiencies may be present. A permanent colostomy may be necessary in the case of imperforate anus. Incontinence may also require some type of continence control system (e.g., self-catheterization) be utilized. Occasionally if deformities of the knees, legs or feet would prove unresponsive to corrective action, amputation at the knee may be proposed.
Before more comprehensive medical treatment was available, full amputation of the legs at the hip was often performed. More recently, the 'amputation' (actually a disarticulation because no cutting of the bone is involved) is done at the knee for those who have bent knee positions and webbing between thigh and calf to enable more ease of mobility and better seating. Some children with knee disarticulation use prosthetic legs to walk. Prosthetics for children without substantial hip and trunk control is usually abandoned in favor of faster and easier wheelchair mobility as the child's weight and age increases. Children may 'walk' on their hands and generally are able to climb and move about to accomplish whatever they need and want to accomplish. Children more mildly affected may have normal gait and no need for assistive devices for walking. Others may walk with bracing or crutches.
There is typically no cognitive impairment associated with this disability. Adults with this disability live independently, attend college, and have careers in various fields. In 2012, Spencer West, a man with sacral agenesis and both legs amputated, climbed Mt. Kilimanjaro using only his hands.
Caudal regression syndrome or sacral agenesis (or hypoplasia of the sacrum) is a congenital disorder in which there is abnormal fetal development of the lower spine—the caudal partition of the spine.
It occurs at a rate of approximately one per 25,000 live births.
Wobbler disease is a catchall term referring to several possible malformations of the cervical vertebrae that cause an unsteady (wobbly) gait and weakness in dogs and horses. A number of different conditions of the cervical (neck) spinal column cause similar clinical signs. These conditions may include malformation of the vertebrae, intervertebral disc protrusion, and disease of the interspinal ligaments, ligamenta flava, and articular facets of the vertebrae. Wobbler disease is also known as cervical vertebral instability, cervical spondylomyelopathy (CSM), and cervical vertebral malformation (CVM). In dogs, the disease is most common in large breeds, especially Great Danes and Doberman Pinschers. In horses, it is not linked to a particular breed, though it is most often seen in tall, race-bred horses of Thoroughbred or Standardbred ancestry. It is most likely inherited to at least some extent in dogs and horses.
Wobbler disease is also found in horses, where it is often called wobbler's syndrome; it refers to several conditions beyond those listed above and is not by itself a singular disease. Wobblers is a broad term used to describe cervical disorders in the horse, including equine wobbles anemia and cervical vertebral myelopathy, spinal cord compression (sometimes referred to colloquially among horse owners as "cervical arthritis" due to the arthritis that accumulates in facets). It is also used as a catch-all phrase within the horse community to describe a neurological problem that causes limb proprioception issues or decreased performance in the horse that is suspected to be rooted in the neck. Most forms of wobblers disease have a root cause in cervical vertebral myelopathy (CVM), which causes inflammation and arthritis in the joint and is painful to affected horses. At this time it is believed to possibly be a congenital condition. Mounting evidence is growing that points to CVM and other cervical and vertebral disorders (like Kissing Spine) as hereditary and found in populations of specific families. .
Other forms, such as cervical arthritis and equine wobbles anemia, are concentrated in certain breeds and demonstrate possible hereditary factors. Horses with wobbler disease often exhibit ataxia (implying dysfunction of parts of the nervous system), show weakness in the hindquarters, or may knuckle over in their fetlocks, particularly in the rear. They also may show overall stiffness especially in the neck and back and may not move fluidly. A common ataxic symptom is the horse will list to one side behind. They also may demonstrate uneven strides with one leg intermittently shorter in step. Horses with wobblers or cervical anomalies can demonstrate difficult to diagnose lamenesses that come and go, and often are not resolved by veterinary blocks to the limbs. With advanced stages of the disease, affected horses are prone to falling due to extreme listing behind and often demonstrate difficulty getting up from lying down, or reluctance to lie down at all. While some cases are successfully treated with nutritional and medical management, surgery is also used. One method is the use of titanium baskets, placed to fuse the vertebrae, thereby preventing compression of the spinal cord. Some horses are able to return to work, with a few able to reach competitive levels. No complete cure for the condition is known. Famous horses known to have completed basket surgery include Seattle Slew. Seattle Slew underwent two basket surgeries and has sired multiple offspring that have cervical arthritis. He is one of many Thoroughbred stallions to have undergone basket surgery and still be used for stud.
Because wobbler's is the best known of the neurological conditions that affect horses, other, unrelated conditions, such as kissing spine, equine protozoal myeloencephalitis and cerebellar abiotrophy, are sometimes misdiagnosed as wobbler's, though the causes and symptoms differ.
In France, Aymé, "et al." (1989) estimated the prevalence of Fryns syndrome to be 0.7 per 10,000 births based on the diagnosis of 6 cases in a series of 112,276 consecutive births (live births and perinatal deaths).
Most children with symbrachydactyly have excellent function in daily activities. Due to the length of their arm, they do not qualify for most artificial limbs. However, some adaptive prosthetics and equipment for sports and leisure activities may be helpful when the child is older. Children who demonstrate some functional movement in their remaining fingers and within the palm are evaluated for possible surgery such as toe transfers.
PHACE syndrome needs to be managed by a multidisciplinary team of experts. Additional specialties such as cardiology, ophthalmology, neurology, and neurosurgery may need to be involved. The team of experts pay close attention to how these children develop throughout the school age period.
PHACE Syndrome Handbook - Dr. Beth Drolet
In 2013, the PHACE Syndrome Community was formed. The non-profit entity was developed to raise awareness about the condition, support patients and families of those with the condition and raise money for research into causes and treatment.