Click here to read up on what the Center for Disease Control and Prevention (CDC) has reported about the H1N1 Flu.
Friday, October 30, 2009
Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of the immune system primarily affecting young infants and children. Although physicians have written about the disorder over the years, it has been only in the last few years that it has received more widespread attention. The prevalence of HLH is 1.2 in every 1,000,000 children under the age of 15.
In 1985, physicians from all over the world who were interested in studying the histiocyte and disorders related to this cell created the Histiocyte Society. Thanks to their research, in part financed by the Histiocytosis Association of America (HAA) and national subgroups, we now have a better understanding of the disease, as well as dramatically improved treatments. With growing knowledge, there is also increased awareness of the disease among nonspecialized physicians.
The disease usually presents with fever and sometimes other symptoms of an infection. In many cases, a pathogen (viral, bacterial, etc.) can be identified. The human body contains many cells including T-cells and histiocytes that fight infection. The activation of these cells causes an inflammatory reaction in the body. Normally, when the pathogen has been eliminated, the inflammatory reaction is turned off, and the immune system returns to its steady state. In HLH patients, due to defect of the immune system, the inflammatory reaction persists and causes the symptoms of HLH.
What is the cause of this severe immune dysregulation?
We currently know that HLH occurs either on the basis of a genetic defect or as a secondary form with underlying diseases such as infections, cancer, or rheumatic diseases. In the primary form, also known as familial hemophagocytic lymphohistiocytosis (FHL or FHLH), defective genes are inherited from both the mother and the father (autosomal recessive inheritance). FHL is diagnosed if there is more than one affected child in the family and/or a gene defect has been determined. FHL should be suspected if the symptoms do not disappear with treatment or if symptoms recur when therapy has been stopped. The onset of FHL is usually early in life, and a persistent cure can only be achieved with BMT (bone marrow transplantation). It is important to know that infections can trigger both the familial and the secondary disease.
So far, 3 gene defects have been identified, which account for approximately 50% to 80% of the familial cases, depending on the population that has been analyzed. Two of the genes, PRF1 and UNC13D, are responsible for the synthesis of proteins, perforin, and MUNC13-4 that are involved in the killing process of infectious pathogens. They are believed to also have a function in switching off immune responses. The precise mechanism, however, is not fully understood. A third defect affecting the Syntaxin 11 (STX11) gene has so far only been detected in patients of Turkish origin. The function of the mutated protein remains to be elucidated. There remains a considerable percentage of FHL patients with no known underlying gene defect.
In cases of secondary HLH, a condition of temporary immunodeficiency seems to contribute to the development of the disease.
Typical symptoms of HLH besides persistent fever are pallor (paleness), jaundice, liver and spleen enlargement, and neurological symptoms, such as irritability or even seizures. The involvement of the bone marrow, the site of blood cell production, can lead to severe decline of the blood cell counts (red and white blood cells and platelets). On bone marrow examination, histiocytes that are “eating” other blood cells (also known as phagocytosis) can be detected. Although the disease was named after this phenomenon, it can be absent at the onset or even throughout the course of the disease.
Because symptoms can vary widely, it is sometimes difficult for the physician to make a diagnosis of HLH early in the course of the disease without the help of specialized laboratory tests. To facilitate a rapid and accurate diagnosis, the Histiocyte Society has created diagnostic guidelines and recommendations concerning the treatment of HLH. This is known as the HLH-2004 treatment protocol.
How is HLH diagnosed?
It is sometimes difficult to establish the diagnosis of HLH, and the combination of the clinical picture and certain laboratory test criteria is required. A test that has been found very useful in substantiating a clinical diagnosis of HLH is absent or low NK (natural killer)-cell function. This is found in 90% of patients with FHL, as well as in many cases of secondary disease. Results of NK-cell function testing are generally reliable if the blood sample is properly shipped and tested in less than 24 hours. NK function cannot be determined prenatally, and it may not be reliably studied until a child is several weeks old. Notably, this test does not discriminate between familial and secondary disease.
Detection of perforin by staining of lymphocytes and analysis by flow cytometry is a highly reliable method for predicting the likelihood of the PRF1 gene mutation as the cause of FHL in a given patient. This test can also be used with reasonable predictive potential to screen parents and siblings to determine whether they might be carriers of PRF1 mutations. This test is not available prenatally.
Another test recently described analyzes the expression of a molecule on the surface of NK-cells (CD107) by flow cytometry that marks NK-cell degranulation. Reduced expression can predict mutations in the UNC13D gene. This test also requires specially prepared blood samples and cannot be used prenatally.
Genetic testing is recommended in cases of suspected FHL and confirms the diagnosis. Usually a blood sample is used. Even in the event of death, salvaged tissue can be tested. Once the genetic defect of a patient is known, the parents and siblings can be easily tested to determine if they are carriers for this specific defect. In such cases, prenatal diagnosis is possible as well.
How is HLH treated?
Without treatment, FHL is usually rapidly fatal with a median survival of about 2 months. The current treatment protocol, HLH 2004, provides recommendations for HLH therapy with a combination of immunosuppressive drugs and chemotherapy. The protocol has been accepted internationally and is used in many countries worldwide. In order to prevent early death or severe persisting organ damage, therapy must be initiated in a timely manner. In FHL cases, only temporary remission will be achieved. For a definite cure, the patient must undergo BMT.
With the former HLH-94 protocol and the now active HLH-2004 protocol, high remission rates and cure rates with BMT have been reported.
Secondary HLH sometimes resolves spontaneously or after treatment of the underlying disease. In some cases, modified immunochemotherapy can be applied, while in others, full immunochemotherapy is required.
Source: Histiocytosis Association of America
Friday, October 16, 2009
“In charitable care giving, your “boss” is the person you serve. The people you serve, by the way, are not customers. They don’t come in to buy a shirt or dress, they come to you in deep need. They have cancer, or heart disease, or have come for your help in delivering a baby. They are the raped, the abused, the homeless, the ignored. They are you mothers and brothers and sisters and children. They come to you because they are suffering in body and soul, and they are calling out to you for help. They are the voice of humanity in distress. They are not asking you to fill their shopping bags but to tend to the cry of their hearts. They need service far beyond customer-focused politeness. They need loving service from people who see their work as sacred.”
I pray that I never lose sight of that...
Posted by LindseyB at 1:13 PM
Wednesday, August 26, 2009
Infections in the brain and spinal cord can cause dangerous inflammation. This inflammation can produce a wide range of symptoms, including fever, headache, or confusion and, in extreme cases, can cause brain damage, stroke, seizures, or even death.
Infection of the meninges, the membranes that surround the brain and spinal cord, is called meningitis and inflammation of the brain itself is called encephalitis. Myelitis is an infection of the spinal cord. When both the brain and the spinal cord become inflamed, the condition is called encephalomyelitis.
What causes meningitis and encephalitis?
Meningitis and encephalitis are usually caused by viruses or bacteria. Most often, the body’s immune system is able to contain and defeat an infection. But if the infection passes into the blood stream and then into the cerebrospinal fluid that surrounds the brain and spinal cord, it can affect the nerves and travel to the brain and/or surrounding membranes, causing inflammation. This swelling can harm or destroy nerve cells and cause bleeding in the brain.
Meningitis is most often caused by a bacterial or viral infection. It also may be caused by a fungal infection, a reaction to certain medications or medical treatments, an inflammatory disease such as lupus, some types of cancer, or a traumatic injury to the head or spine.
Bacterial meningitis is a rare but potentially fatal disease. It can be caused by several types of bacteria that first cause an upper respiratory tract infection and then travel through the blood stream to the brain. The disease can also occur when certain bacteria invade the meninges directly. The disease can block blood vessels in the brain, causing stroke and permanent brain damage.
Pneumococcal meningitis is the most common form of meningitis and is the most serious form of bacterial meningitis. Some 6,000 cases of pneumococcal meningitis are reported in the United States each year. The disease is caused by the bacterium Streptococcus pneumoniae, which also causes pneumonia, blood poisoning (septicemia), and ear and sinus infections. At particular risk are children under age 2 and adults with a weakened or depressed immune system. Persons who have had pneumococcal meningitis often suffer neurological damage ranging from deafness to severe brain damage.
Meningococcal meningitis, which is caused by the bacterium Neisseria meningitides, is common in children ages 2-18. Each year in the United States about 2,600 people get this highly contagious disease. High-risk groups include infants under the age of 1 year, people with suppressed immune systems, travelers to foreign countries where the disease is endemic, and college students (freshmen in particular) who reside in dormitories. Between 10 and 15 percent of cases are fatal, with another 10-15 percent causing brain damage and other serious side effects.
Haemophilus meningitis was at one time the most common form of bacterial meningitis. Fortunately, the Haemophilus influenzae b vaccine has greatly reduced the number of cases in the United States. Those most at risk of getting this disease are children in child-care settings and children who do not have access to the vaccine.
Other forms of bacterial meningitis include Listeria monocytogenes meningitis, which can cross the placental barrier and cause a baby to be stillborn or die shortly after birth; Escherichia coli meningitis, which is most common in elderly adults and newborns and may be transmitted to a baby through the birth canal, and Mycobacterium tuberculosis meningitis, a rare disease that occurs when the bacterium that causes tuberculosis attacks the meninges.
Viral, or aseptic, meningitis is the most common form of meningitis in the United States. This typically mild and non-lethal disease is usually caused by enteroviruses—common viruses that enter the body through the mouth and travel to the brain and surrounding tissues where they multiply. Enteroviruses are present in mucus, saliva, and feces and can be transmitted through direct contact with an infected person or an infected object or surface. Other viruses that cause meningitis include varicella zoster (the virus that causes chicken pox and can appear decades later as shingles), influenza, mumps, HIV, and herpes simplex type 2 (genital herpes).
Many fungal infections can affect the brain. The most common form of fungal meningitis is caused by the fungus cryptococcus neoformans (found mainly in dirt and bird droppings). Cryptococcal meningitis is common in AIDS patients. Although treatable, fungal meningitis often recurs in nearly half of affected persons.
Encephalitis can be caused by bacterial infection and, most often, viral infections. Several thousand cases of encephalitis are reported each year, but many more may actually occur since the symptoms may be mild to non-existent in most patients.
There are two types of encephalitis. Primary encephalitis (also called acute viral encephalitis) is caused by a direct viral infection of the spinal cord and brain. The infection may be focal (located in only one area) or diffuse (located in many different areas). Secondary encephalitis, also known as post-infective encephalitis, can result from complications of a current viral infection. Secondary encephalitis that results from an immunization or earlier viral infection is known as acute disseminated encephalitis. This illness often occurs 2 to 3 weeks following the initial infection.
Most cases of encephalitis in the United States are caused by enteroviruses, herpes simplex virus types 1 and 2, a bite from a rabid animal (rabies virus), or arboviruses, which are transmitted from infected animals to humans through the bite of an infected tick, mosquito, or other blood-sucking insect. Lyme disease, a bacterial infection spread by tick bite, can cause encephalitis.
Herpes simplex encephalitis (HSE) is responsible for about 10 percent of all encephalitis cases, with a frequency of about 2 cases per million persons per year. More than half of untreated cases are fatal. About 30 percent of cases result from the initial infection with the herpes simplex virus; the majority of cases are caused by reactivation of an earlier infection.
HSE due to herpes simplex virus type 1 (which causes cold sores or blisters around the mouth or eyes) can affect any age group but is most often seen in persons under age 20 or over age 40. This rapidly progressing disease is the single most important cause of fatal sporadic encephalitis in the U.S. The virus is transmitted through contact with an infected person. Symptoms include headache and fever for up to 5 days, followed by personality and behavioral changes, seizures, partial paralysis, hallucinations, and altered levels of consciousness. Brain damage in adults and in children beyond the neonatal period is usually seen in the frontal and temporal lobes and can be severe.
Type 2 virus (genital herpes) is most often transmitted through sexual contact. An infected mother can transmit the disease to her child at birth, through contact with genital secretions, but this is uncommon. In newborns, symptoms such as lethargy, irritability, tremors, seizures, and poor feeding generally develop between 4 and 11 days after delivery.
Powassan encephalitis is the only well-documented tick-borne arbovirus in the United States and Canada. Symptoms are noticed 7-10 days following the bite and may include headache, fever, nausea, confusion, partial paralysis, and coma. Permanent neurologic damage occurs in about half of all cases and death in about 10-15 percent of all cases.
Four common forms of mosquito-transmitted viral encephalitis are seen in the United States:
Equine encephalitis affects horses and humans. Eastern equine encephalitis also infects birds that live in freshwater swamps of the eastern U.S. seaboard and along the Gulf Coast. In humans, symptoms are seen 4-10 days following transmission and include sudden fever, general flu-like muscle pains, and headache of increasing severity, followed by coma and death in severe cases. About half of infected patients die from the disorder. Fewer than 10 human cases are seen annually in the United States. Western equine encephalitis is seen in farming areas in the western and central plains states. Symptoms begin 5-10 days following infection. Children, particularly those under 12 months of age, are affected more severely than adults and may have permanent neurologic damage. Death occurs in about 3 percent of cases. Venezuelan equine encephalitis is very rare in this country. Children are at greatest risk of developing severe complications, while adults generally develop flu-like symptoms. Epidemics in South and Central America have killed thousands of persons and left others with permanent, severe neurologic damage.
LaCrosse encephalitis occurs most often in the upper midwestern states (Illinois, Wisconsin, Indiana, Ohio, Minnesota, and Iowa) but also has been reported in the southeastern and mid-Atlantic regions of the country. Most cases are seen in children under age 16. Symptoms such as vomiting, headache, fever, and lethargy appear 5-10 days following infection. Severe complications include seizure, coma, and permanent neurologic damage. About 100 cases of LaCrosse encephalitis are reported each year.
St. Louis encephalitis is most prevalent in temperate regions of the United States but can occur throughout most of the country. The disease is generally milder in children than in adults, with elderly adults at highest risk of severe disease or death. Symptoms typically appear 7-10 days following infection and include headache and fever. In more severe cases, confusion and disorientation, tremors, convulsions (especially in the very young), and coma may occur.
West Nile encephalitis was first clinically diagnosed in the United States in 1999; 284 people are known to have died of the virus the following year. There were 9,862 reported cases of human West Nile disease in calendar year 2003, with a total of 560 deaths from this disorder over 5 years. The disease is usually transmitted by a bite from an infected mosquito, but can also occur after transplantation of an infected organ or transfusions of infected blood or blood products. Symptoms are flu-like and include fever, headache, and joint pain. Some patients may develop a skin rash and swollen lymph glands, while others may not show any symptoms. At highest risk are elderly adults and people with weakened immune systems.
Who is at risk for encephalitis and meningitis?
Anyone can get encephalitis or meningitis. People with weakened immune systems, including those persons with HIV or those taking immunosuppressant drugs, are at the highest risk of contracting the diseases.
How are these disorders transmitted?
Some forms of bacterial meningitis and encephalitis are contagious and can be spread through contact with saliva, nasal discharge, feces, or respiratory and throat secretions (often spread through kissing, coughing, or sharing drinking glasses, eating utensils, or such personal items as toothbrushes, lipstick, or cigarettes). For example, people sharing a household, at a day care center, or in a classroom with an infected person can become infected. College students living in dormitories—in particular, college freshmen—have a higher risk of contracting meningococcal meningitis than college students overall. Children who do not have access to childhood vaccines are at increased risk of developing certain types of bacterial meningitis. Because these diseases can occur suddenly, anyone who is suspected of having either meningitis or encephalitis should immediately contact a doctor or go to the hospital.
What are the signs and symptoms?
The hallmark signs of meningitis are sudden fever, severe headache, and a stiff neck; encephalitis is characterized by seizures, stupor, coma, and related neurological signs. In more severe cases, neurological symptoms may include nausea and vomiting, confusion and disorientation, drowsiness, sensitivity to bright light, and poor appetite.
Meningitis often appears with flu-like symptoms that develop over 1-2 days. Distinctive rashes are typically seen in some forms of the disease. Meningococcal meningitis may be associated with kidney and adrenal gland failure and shock.
Patients with encephalitis often show mild flu-like symptoms. In more severe cases, patients may experience problems with speech or hearing, double vision, hallucinations, personality changes, loss of consciousness, loss of sensation in some parts of the body, muscle weakness, partial paralysis in the arms and legs, sudden severe dementia, impaired judgment, seizures, and memory loss.
Important signs of encephalitis to watch for in an infant include vomiting, body stiffness, constant crying that may become worse when the child is picked up, and a full or bulging fontanel (the soft spot on the top of the head).
How are meningitis and encephalitis diagnosed?
Following a physical exam and medical history to review activities of the past several days (such as recent exposure to insects or animals, any contact with ill persons, or recent travel), the doctor may order various diagnostic tests to confirm the presence of infection and inflammation. Early diagnosis is vital, as symptoms can appear suddenly and escalate to brain damage, hearing and/or speech loss, blindness, or even death.
A neurological examination involves a series of tests designed to assess motor and sensory function, nerve function, hearing and speech, vision, coordination and balance, mental status, and changes in mood or behavior. Doctors may test the function of the nervous system through tests of strength and sensation, with the aid of items including a tuning fork, small light, reflex hammer, and pins.
Laboratory screening of blood, urine, and body secretions can help detect and identify brain and/or spinal cord infection and determine the presence of antibodies and foreign proteins. Such tests can also rule out metabolic conditions that have similar symptoms. For example, a throat culture may be taken to check for viral or bacterial organisms that cause meningitis or encephalitis. In this procedure, the back of the throat is wiped with a sterile cotton swab, which is then placed on a culture medium. Viruses and bacteria are then allowed to grow on the medium. Samples are usually taken in the physician’s office or in a laboratory setting and sent out for analysis to state laboratories or to the U.S. Centers for Disease Control and Prevention. Results are usually available in 2 to 3 days.
Analysis of the cerebrospinal fluid that surrounds and protects the brain and spinal cord can detect infections in the brain and/or spinal cord, acute and chronic inflammation, and other diseases. In a procedure known as a spinal tap (or lumbar puncture), a small amount of cerebrospinal fluid is removed by a special needle that is inserted into the lower back. The skin is anesthetized with a local anesthetic prior to the sampling. The fluid, which is completely clear in healthy people, is tested to detect the presence of bacteria or blood, as well as to measure glucose levels (a low glucose level is a sign of bacterial or fungal meningitis) and white blood cells (elevated white blood cell counts are also a sign of infection). The procedure is usually done in a hospital and takes about 45 minutes.
Computer-assisted imaging can reveal signs of brain inflammation, internal bleeding or hemorrhage, or other brain abnormalities. Two painless, noninvasive imaging procedures are routinely used to diagnose meningitis and encephalitis.
Computed tomography, also known as a CT scan, combines x-rays and computer technology to produce rapid, clear, two-dimensional images of organs, bones, and tissues. Occasionally a contrast dye is injected into the bloodstream to highlight the different tissues in the brain and to detect signs of encephalitis or inflammation of the meninges. CT scans can also detect bone and blood vessel irregularities, certain brain tumors and cysts, herniated discs, spinal stenosis (narrowing of the spinal canal), blood clots or intracranial bleeding in patients with stroke, brain damage from a head injury, and other disorders.
Magnetic resonance imaging (MRI) uses computer-generated radio waves and a strong magnet to produce detailed images of body structures, including tissues, organs, bones, and nerves. The pictures, which are clearer than those produced by CT, can help identify brain and spinal cord inflammation, infection, tumors, eye disease, and blood vessel irregularities that may lead to stroke. A contrast dye may be injected prior to the test to reveal more detail.
Electroencephalography, or EEG, can identify abnormal brain waves by monitoring electrical activity in the brain through the skull. Among its many functions, EEG is used to help diagnose certain seizure disorders, brain damage from head injuries, specific viral infections such as herpes virus, and inflammation of the brain and/or spinal cord. This painless, risk-free test can be performed in a doctor’s office or at a hospital or testing facility.
How are these infections treated?
Persons who are suspected of having meningitis or encephalitis should receive immediate, aggressive medical treatment. Both diseases can progress quickly and have the potential to cause severe, irreversible neurological damage.
Early treatment of bacterial meningitis is important to its outcome. Strong doses of general antibiotics may be prescribed first, followed by intravenous antibiotics in more severe cases. Antibiotics may also be given to prevent other bacterial infections. Appropriate antibiotic treatment for most types of meningitis can reduce the risk of dying from the disease to below 15 percent.
Infected sinuses may need to be drained. Corticosteroids such as prednisone may be ordered to relieve brain pressure and swelling and to prevent hearing loss that is common in patients with Haemophilus influenza meningitis. Pain medicine and sedatives may be given to make patients more comfortable. Lyme disease is treated with intravenous antibiotics.
Unlike bacteria, viruses cannot be killed by antibiotics (an exception is the herpes virus, which can be treated with the antiviral drug acyclovir). Patients with mild viral meningitis may be allowed to stay at home, while those who have a more serious infection may be hospitalized for supportive care. Patients with mild cases, which often cause only flu-like symptoms, may be treated with fluids, bed rest (preferably in a quiet, dark room), and analgesics for pain and fever. The physician may prescribe anticonvulsants such as dilantin or phenytoin to prevent seizures and corticosteroids to reduce brain inflammation. If inflammation is severe, pain medicine and sedatives may be prescribed to make the patient more comfortable.
Acute disseminated encephalomyelitis is treated with steroids. Fungal meningitis is treated with intravenous antifungal medications.
Antiviral drugs used to treat viral encephalitis include acyclovir and ganciclovir.
Very mild cases of encephalitis may be monitored at home by the physician and a caregiver. Supportive care includes fluids, bed rest, and over-the-counter analgesics to reduce fever and headache. More severe cases may require hospitalization. Anticonvulsants may be prescribed to stop or prevent seizures, along with sedatives to calm more severely infected persons and drugs to counter nausea and vomiting. Corticosteroids and intravenous administration of carbohydrate solutions can reduce brain swelling. Patients with breathing difficulties may require artificial respiration.
Patients who experience severe brain inflammation may need physical, speech, and occupational therapy once the acute illness is under control.
Can meningitis and encephalitis be prevented?
Good personal hygiene can reduce the risk of getting the disease from an infected person. Avoid sharing food, utensils, glasses, and other objects with a person who may be exposed to or have the infection. Wash hands often with soap and rinse under running water.
Effective vaccines are available to prevent pneumonia, H. influenza, pneumococcal meningitis, and infection with other bacteria that can cause meningococcal meningitis.
People who live, work, or go to school with someone who has been diagnosed with bacterial meningitis may be asked to take antibiotics for a few days as a preventive measure.
To lessen the risk of being bitten by an infected mosquito or other insect, people should limit outdoor activities at night, wear long-sleeved clothing when outdoors, use insect repellents that are most effective for that particular region of the country, and rid lawn and outdoor areas of free-standing pools of water, in which mosquitoes breed. Do not over-apply repellants, particularly on young children and especially infants, as chemicals may be absorbed through the skin.
What is the prognosis for these infections?
Outcome generally depends on the particular infectious agent involved, the severity of the illness, and how quickly treatment is given. In most cases, people with very mild encephalitis or meningitis can make a full recovery, although the process may be slow.
Patients who experience only headache, fever, and stiff neck may recover in 2-4 weeks. Patients receiving treatment for viral meningitis and encephalitis usually see some relief in 24-48 hours and recovery in about a month. Patients with bacterial meningitis typically show some relief 48-72 hours following initial treatment but are more likely to experience complications caused by the disease. In more serious cases, these diseases can cause hearing and/or speech loss, blindness, permanent brain and nerve damage, behavioral changes, cognitive disabilities, lack of muscle control, seizures, and memory loss. These patients may need long-term therapy, medication, and supportive care.
Infomation obtained from National Institute of Neurological Disorders and Stroke
Friday, August 21, 2009
Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.
People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.
What genes are related to Treacher Collins syndrome?
Mutations in the TCOF1 gene cause Treacher Collins syndrome.
The TCOF1 gene provides instructions for making a protein called treacle. Although researchers have not determined the precise function of this protein, they believe that it plays a critical role before birth in the development of bones and other tissues in the face. Mutations in the TCOF1 gene reduce the amount of treacle that is produced in cells. Researchers believe that a loss of this protein signals cells that are important for the development of facial bones to self-destruct (undergo apoptosis). This abnormal cell death may lead to the specific problems with facial development found in Treacher Collins syndrome.
Read more about the TCOF1 gene.
How do people inherit Treacher Collins syndrome?
This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of cases result from new mutations in the TCOF1 gene. These cases occur in people with no history of the disorder in their family. In the remaining cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.
Where can I find information about treatment for Treacher Collins syndrome?
These resources address the management of Treacher Collins syndrome and may include treatment providers.
Gene Review: Treacher Collins Syndrome
MedlinePlus Encyclopedia: Micrognathia
MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears
MedlinePlus Encyclopedia: Treacher-Collins Syndrome
You might also find information on treatment of Treacher Collins syndrome in Educational resources and Patient support.
Where can I find additional information about Treacher Collins syndrome?
You may find the following resources about Treacher Collins syndrome helpful. These materials are written for the general public.
MedlinePlus - Health information (5 links)
Educational resources - Information pages (7 links)
Patient support - For patients and families (10 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary
Gene Tests - DNA tests ordered by healthcare professionals
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
Online Books - Medical and science texts
Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Treacher Collins Syndrome
OMIM - Genetic disorder catalog
Mandibulofacial dysostosis (MFD1)
Treacher Collins-Franceschetti syndrome
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.
Published: August 14, 2009
Monday, July 6, 2009
Shone’s complex is a congenital heart disease, consisting of
multiple levels of left sided obstructive lesions including
supravalvar mitral ring, parachute mitral valve, subaortic
stenosis, and coarctation of aorta. This is a very rare malformation
and a very few cases have been reported in literature.
Shone’s complex is a rare congenital heart disease described
by Shone et al initially in 1963. It typically consists of four
obstructive lesions of the left side of the heart and circulation
namely parachute like mitral valve, supravalvar mitral ring,
subaortic stenosis , and coarctation of aorta. There is a complete
form of Shone’s complex wherein all the four lesions are present;
however incomplete forms with two or three lesions are also
described. Other coexisting mitral valve anomalies have been
reported such as fused chordae, single papillary muscle and
“typical” (Ruckman & Van Praagh) congenital mitral stenosis.
The LVOT obstruction features may include subaortic stenosis,
valvar aortic stenosis, bicuspid aortic valve, and coarctation of
Supravalvar mitral ring is a circumferential ridge or
membrane, which arises from the left atrial wall overlying
the mitral valve and is frequently attached to the mitral valve.
The ring may range from a thin membrane to a thick discrete
fibrous ridge. It may vary in its extent. Adhesion to the valve
may impair opening of the leaflets causing mitral-valve inflow
obstruction in some patients. In other patients, the ring may
be large and protrude into the mitral-valve inflow thus causing
Parachute mitral valve is defined as a unifocal attachment
of mitral valve chordae independent of the number of papillary
muscles. A true parachute mitral valve (PMV) is characterized by
attachment of the chordae to a single or fused papillary muscle;
however PMV also includes asymmetrical mitral valves having
two papillary muscles, one of which is dominant and elongated,
with its tip reaching to the valve leaflets. The unifocal attachment
of the chordae results in a restricted valve opening and subvalvar
obstruction and, rarely, valvar regurgitation. Oosthoek et
al suggested that these morphological features distinguish a
parachute-like mitral valve from a true PMV.
Shone’s complex is a rare congenital anomaly. Fewer than 100
patients have been reported in the literature. It is mostly detected
in childhood as the patient becomes symptomatic by the age of
2 years. The usual symptoms are dyspnea, nocturnal cough,
tachypnea, poor feeding, failure to thrive, fatigue, and signs
and symptoms of heart failure and reduced cardiac output. The
child usually has recurrent episodes of wheezing and respiratory
tract infections due to pulmonary congestion and exudation of
fluid into the lungs. The patient may occasionally present with
acute pulmonary edema.
It is extremely unusual for a patient to remain largely
asymptomatic throughout childhood and get incidentally
detected during adulthood while evaluating for some unrelated
illness. The present case therefore assumes significance. This
patient had been largely asymptomatic (except for NYHA class I
dyspnoea which he had ignored) in childhood. He had presented
to us for meningitis during which his clinical examination
revealed evidence of mitral stenosis along with left ventricular
outflow tract obstruction and aortic coarctation. This prompted
us to investigate the patient in detail. The echocardiographic
findings revealed the features of complete form of Shone’s
A literature search revealed a few articles mostly case reports.
Goswami et al reported Shone’s anomaly in a young gravid
female mimicking preeclampsia at 25 weeks gestation. Most of
the other reports are in children. Most of these reports are from
foreign literature. To the best of our knowledge the present case
report is the first report of Shone’s anomaly from India.
A good outcome is possible in patients with Shone’s complex,
provided the surgical intervention is undertaken early before
the onset of pulmonary hypertension. Mitral valve repair
along with resection of supramitral ring is preferable over valve
replacement. Other surgical procedures depend upon existence
of associated cardiac anomalies, which ultimately define late
Click here for Case Report referenced.
Saturday, July 4, 2009
Normally, oxygen-poor (blue) blood returns to the right atrium from the body, travels to the right ventricle, then is pumped into the lungs where it receives oxygen. Oxygen-rich (red) blood returns to the left atrium from the lungs, passes into the left ventricle, and then is pumped out to the body through the aorta.
A ventricular septal defect allows oxygen-rich (red) blood to pass from the left ventricle, through the opening in the septum, and then mix with oxygen-poor (blue) blood in the right ventricle.
1. perimembranous VSD - an opening in the upper section of the ventricular septum, near the valves, occurs in 75 percent of all VSD cases.
2. muscular VSD - an opening in the lower section of the ventricular septum occurs in up to 20 percent of all VSD cases.
Ventricular septal defects are the most commonly occurring type of congenital heart defect, occurring in 14 to 17 percent of babies born each year.
What causes ventricular septal defect?
Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. Most ventricular septal defects occur sporadically (by chance), with no clear reason for their development.
Why is ventricular septal defect a concern?
A small opening in the ventricular septum allows a small amount of blood to pass through from the left ventricle to the right ventricle. A large opening allows more blood to pass through and mix with the normal blood flow in the right heart. Extra blood causes higher pressure in the blood vessels in the lungs. The larger the volume of blood that goes to the lungs, the higher the pressure.
The lungs are able to cope with this extra pressure for while, depending on exactly how high the pressure is. After a while, however, the blood vessels in the lungs become diseased by the extra pressure.
As pressure builds up in the lungs, the flow of blood from the left ventricle, through the VSD, into the right ventricle, and on to the lungs will diminish. This helps preserve the function of the lungs, but causes yet another problem. Blood flow within the heart goes from areas where the pressure is high to areas where the pressure is low. If a ventricular septal defect is not repaired, and lung disease begins to occur, pressure in the right side of the heart will eventually exceed pressure in the left. In this instance, it will be easier for oxygen-poor (blue) blood to flow from the right ventricle, through the VSD, into the left ventricle, and on to the body. When this happens, the body does not receive enough oxygen in the bloodstream to meet its needs.
Because blood is pumped at high pressure by the left ventricle through the VSD, tissue damage may eventually occur in the right ventricle. Bacteria in the bloodstream can easily infect this injured area, causing a serious illness known as bacterial endocarditis.
Some ventricular septal defects are found in combination with other heart defects (such as in transposition of the great arteries).
What are the symptoms of a ventricular septal defect?
Symptoms often occur in infancy. The following are the most common symptoms of VSD. However, each child may experience symptoms differently.
Symptoms may include:
- rapid breathing
- heavy breathing
- congested breathing
- disinterest in feeding, or tiring while feeding
- poor weight gain
How is a ventricular septal defect diagnosed?
A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood. The cardiologist will perform a physical examination, listening to the heart and lungs, and make other observations that help in the diagnosis. The location within the chest where the murmur is heard best, as well as the loudness and quality of the murmur (harsh, blowing, etc.) will give the cardiologist an initial idea of which heart problem your child may have.
- chest x-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film. With a VSD, the heart may be enlarged because the right ventricle handles larger amounts of blood flow than normal. Also, there may be changes that take place in the lungs due to extra blood flow that can be seen on an x-ray.
- electrocardiogram (ECG or EKG) - a test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle stress.
- echocardiogram (echo) - a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves. An echo can show the pattern of blood flow through the septal opening, and determine how large the opening is, as well as much blood is passing through it.
- cardiac catheterization - a cardiac catheterization is an invasive procedure that gives very detailed information about the structures inside the heart. Under sedation, a small, thin, flexible tube (catheter) is inserted into a blood vessel in the groin, and guided to the inside of the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta. Contrast dye is also injected to more clearly visualize the structures inside the heart.
Treatment for ventricular septal defect:
Specific treatment for VSD will be determined by your child's physician based on:
your child's age, overall health, and medical history, extent of the disease,
your child's tolerance for specific medications, procedures, or therapies, expectations for the course of the disease , your opinion or preference.
Small ventricular septal defects may close spontaneously as your child grows. A larger VSD usually requires surgical repair. Regardless of the type, once a ventricular septal defect is diagnosed, your child's cardiologist will evaluate your child periodically to see whether it is closing on its own. A VSD will be repaired if it has not closed on its own - to prevent lung problems that will develop from long-time exposure to extra blood flow. Treatment may include:
medical managementSome children have no symptoms, and require no medication. However, most children may need to take medications to help the heart work better, since the right side is under strain from the extra blood passing through the VSD.
Medications that may be prescribed include the following:
1. digoxin - a medication that helps strengthen the heart muscle, enabling it to pump more efficiently.
2. diuretics - the body's water balance can be affected when the heart is not working as well as it could. These medications help the kidneys remove excess fluid from the body.
Adequate Nutrition Infants with a larger VSD may become tired when feeding, and are not able to eat enough to gain weight. Options that can be used to ensure your baby will have adequate nutrition include the following:
1. high-calorie formula or breast milkSpecial nutritional supplements may be added to formula or pumped breast milk that increase the number of calories in each ounce, thereby allowing your baby to drink less and still consume enough calories to grow properly.
2. supplemental tube feedingsFeedings given through a small, flexible tube that passes through the nose, down the esophagus, and into the stomach, can either supplement or take the place of bottle feedings. Infants who can drink part of their bottle, but not all, may be fed the remainder through the feeding tube. Infants who are too tired to bottle feed may receive their formula or breast milk through the feeding tube alone.
Infection Control Children with certain heart defects are at risk for developing an infection of the inner surfaces of the heart known as bacterial endocarditis. A common procedure that puts your child at risk for this infection is a routine dental check-up and teeth cleaning. Other procedures may also increase the risk of the heart infection occurring. However, giving children with heart defects an antibiotic by mouth before these procedures can help prevent bacterial endocarditis. It is important that you inform all medical personnel that your child has a VSD so they may determine if the antibiotics are necessary before a procedure.
Surgical Repair The goal is to repair the septal opening before the lungs become diseased from too much blood flow and pressure. Repair is indicated for defects that are causing symptoms, such as poor weight gain and rapid breathing. Your child's cardiologist will recommend when the repair should be performed based on echocardiogram and cardiac catheterization results.Your child's VSD may be repaired surgically in the operating room or by a cardiac catheterization procedure. One method currently being used to close some VSDs is the use of a device called a septal occluder. During this procedure, the child is sedated and a small, thin flexible tube is inserted into a blood vessel in the groin and guided into the heart. Once the catheter is in the heart, the cardiologist will pass the septal occluder into the VSD. The septal occluder closes the ventricular septal defect providing a permanent seal.The operation is performed under general anesthesia. Depending on the size of the heart defect and your physician's recommendations, the ventricular septal defect will be closed with stitches or a special patch. Consult your child's cardiologist for more information.
Postoperative care for your child:
In most cases, children will spend time in the intensive care unit (ICU) after an VSD repair. During the first several hours after surgery, your child will most likely be drowsy from the anesthesia that was used during the operation, and from medications given to relax him/her and to help with pain. As time goes by, your child will become more alert.
While your child is in the ICU...which is where I come in...special equipment will be used to help him/her recover, and may include the following:
1. ventilator - a machine that helps your child breathe while he/she is under anesthesia during the operation. A small, plastic tube is guided into the windpipe and attached to the ventilator, which breathes for your child while he/she is too sleepy to breathe effectively on his/her own. Many children have the ventilator tube removed right after surgery, but some other children will benefit from remaining on the ventilator for a few hours afterwards so they can rest.
intravenous (IV) catheters - small, plastic tubes inserted through the skin into blood vessels to provide IV fluids and important medications that help your child recover from the operation.
arterial line - a specialized IV placed in the wrist, or other area of the body where a pulse can be felt, that measures blood pressure continuously during surgery and while your child is in the ICU.
2. nasogastric (NG) tube - a small, flexible tube that keeps the stomach drained of acid and gas bubbles that may build up during surgery.
3. urinary catheter - a small, flexible tube that allows urine to drain out of the bladder and accurately measures how much urine the body makes, which helps determine how well the heart is functioning. After surgery, the heart will be a little weaker than it was before, and, therefore, the body may start to hold onto fluid, causing swelling and puffiness. Diuretics may be given to help the kidneys to remove excess fluids from the body.
chest tube - a drainage tube may be inserted to keep the chest free of blood that would otherwise accumulate after the incision is closed. Bleeding may occur for several hours, or even a few days after surgery.
4. heart monitor - a machine that constantly displays a picture of your child's heart rhythm, and monitors heart rate, arterial blood pressure, and other values.
Your child may need other equipment not mentioned here to provide support while in the ICU, or afterwards. The hospital staff will explain all of the necessary equipment to you.
Your child will be kept as comfortable as possible with several different medications; some which relieve pain, and some which relieve anxiety. The staff may also ask for your input as to how best to soothe and comfort your child.
After discharged from the ICU, your child will recuperate on another hospital unit for a few days before going home. You will learn how to care for your child at home before your child is discharged. Your child may need to take medications for a while, and these will be explained to you. The staff will give you written instructions regarding medications, activity limitations, and follow-up appointments before your child is discharged.
Care for your child at home following VSD surgical repair:
Most infants and older children feel fairly comfortable when they go home. Pain medications, such as acetaminophen or ibuprofen, may be recommended to keep your child comfortable. Your child's physician will discuss pain control before your child is discharged from the hospital.
Often, infants who fed poorly prior to surgery have more energy after the recuperation period, and begin to eat better and gain weight faster.
After surgery, older children usually have a fair tolerance for activity. Your child may become tired quicker than before surgery, but usually will be allowed to play with supervision, while avoiding blows to the chest that might cause injury to the incision or breastbone. Within a few weeks, your child should be fully recovered and able to participate in normal activity.
You may receive additional instructions from your child's physicians and the hospital staff.
Long-term outlook after VSD surgical repair:Most children who have had a ventricular septal defect repair will live healthy lives. Activity levels, appetite, and growth will return to normal in most children. Your child's cardiologist may recommend that antibiotics be given to prevent bacterial endocarditis for a specific time period after discharge from the hospital.
Consult your child's physician regarding the specific outlook for your child.
Information obtained from RUMC
Friday, July 3, 2009
Annular pancreas occurs when pancreatic tissue surrounds the second portion of the duodenum. If the encirclement is complete, it may be associated with complete or incomplete duodenal obstruction. Since duodenal atresia or duodenal stenosis occurs in all cases of annular pancreas, the anomalous pancreas should be considered a secondary change rather than a primary cause of duodenal obstruction.
The etiology of duodenal atresia and stenosis is unknown. Failure of recanalization of the duodenal lumen remains the favored theory, compared with intrauterine vascular ischemia.
During the third week of embryonic development, the second portion of the duodenum, at the junction of the foregut and midgut, forms biliary and pancreatic buds, which are derived from endoderm. During the next 4 weeks, these buds differentiate into the hepatobiliary system, with the development and subsequent fusion of the 2 pancreatic anlagen. Concurrently, the epithelium of the duodenum undergoes active proliferation, which, at times, completely obliterates the duodenal lumen. Vacuolization, followed by recanalization, reestablishes the hollow viscus.
The second part of the duodenum is the last to recanalize. The early forming biliary system consists of 2 channels arising from the embryonic duodenum. This structure creates a narrow segment of bowel, approximately 0.125 mm in length, that is interposed between the 2 biliary channels. This narrow region is the area most prone to problems, with recanalization and with atresia formation. The ampulla of Vater usually is immediately adjacent to or traverses the medial wall of the diaphragm. The presence of a bifid biliary system, or the insertion of 1 duct above the atresia and 1 duct below it, is rare, occurring when both biliary duct anlagen remain patent. The presence of bile above and below the atresia indicates a bifid biliary system.
United States The incidence of duodenal atresia is 1 per 6000 births. Intrinsic congenital duodenal obstruction constitutes two thirds of all congenital duodenal obstructions (duodenal atresia, 40-60%; duodenal web, 35-45%; annular pancreas, 10-30%; duodenal stenosis, 7-20%).
International The incidence in Finland of congenital obstruction (intrinsic, extrinsic, combined) is 1 per 3400 live births.
If duodenal atresia or significant duodenal stenosis is left untreated, the condition rapidly becomes fatal as a result of electrolyte loss and fluid imbalance.
One half of the neonates with duodenal atresia or stenosis are born prematurely.
Hydramnios occurs in approximately 40% of neonates with duodenal obstruction.
Duodenal atresia or duodenal stenosis is most commonly associated with trisomy 21. About 22-30% of patients with duodenal obstruction have trisomy 21. Other problems associated with trisomy 21 include cardiac defects (most commonly ventricular septal defects and endocardial defects), as well as Hirschsprung disease.
No racial predilection exists.
The incidence of duodenal atresia and duodenal stenosis is approximately equal in males and females.
Infants with duodenal atresia present with vomiting in their first few hours of life, but patients with duodenal stenosis present at various ages. The clinical findings depend on the degree of stenosis. Occasionally, with duodenal web or duodenal stenosis, presentation occurs in adulthood.
In most cases, duodenal atresia occurs below the ampulla of Vater. In a very few cases, the atresia occurs proximal to the ampulla.
Bile-stained vomit in neonates aged 24 hours or younger is the typical presentation of atresia or severe stenosis. Minimal duodenal obstruction in mild stenosis or duodenal membrane may have few symptoms. In a few cases, the atresia is proximal to the ampulla of Vater and the vomit is free of bile.Both duodenal anomalies can be associated with other GI and biliary tract abnormalities (malrotation, esophageal atresia, ectopic anus, annular pancreas, gallbladder or biliary atresia, vertebral anomalies). In addition, duodenal atresia can be associated with a duodenal diaphragm, as well as with congenital abnormalities in other systems. Examples include VATER (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal anomalies) association and VACTERL (vertebral, anal, cardiac, tracheal, esophageal, renal, limb) syndrome.Anomalies of the kidneys can occur in VATER association; the most common of these renal abnormalities include aplasia, dysplasia, hydronephrosis, ectopia, persistent urachus, vesicoureteral reflux, and ureteropelvic obstruction.
A few familial cases have been reported.
Plain radiographs that demonstrate a double-bubble appearance with no distal gas are characteristic of duodenal atresia. Distal bowel gas indicates stenosis, incomplete membrane, or a hepatopancreatic ductal anomaly. Occasionally, a radiograph must be obtained with the patient in the erect or the decubitus position to delineate the duodenal component. If a combination of esophageal atresia and duodenal atresia is present, ultrasonography is preferred.
Limitations of Techniques
No oral contrast materials are necessary in the evaluation of complete duodenal obstruction. Occasionally, a small amount of positive contrast material can be instilled through a feeding tube into the distal stomach and duodenum to differentiate the diaphragm from a long stenosis.
Occasionally, barium enema examination is suggested as an adjunct study in the evaluation of duodenal atresia. Barium enema findings can demonstrate a malpositioned cecum, but this is not always diagnostic of malrotation and volvulus. In addition, if a microcolon is demonstrated, the presence of additional, more distal atresias can be suggested. Succus entericus may be prevented from reaching the colon because of the additional area of bowel obstruction. Multiple atresias are present in approximately 15% of patients. However, most surgeons can determine the presence of malrotation and additional atresias at the time of surgery.
What Is It?
An Atrial Septal Defect (ASD) is a hole in the atrial septum, or muscle wall, that separates the right and left atria (singular = atrium), or upper chambers of the heart. Because of the lower pressure in the right atrium, this hole typically allows oxygenated blood from the lungs to move, or shunt, from the left into the right atrium. This blood proceeds into the right ventricle, which pumps it back to the lungs rather than to the body.ASDs vary in size and in the severity of symptoms they may cause. They account for between 5 and 10 per cent of all cases of congenital heart disease and are twice as prevalent among girls as boys.
What are its effects? Children with significant ASDs are characteristically slender of build and have a heart murmur. The murmur is caused by the extra blood flow across the pulmonary valve. Some children may experience shortness of breath or heart palpitations. However, they are normally active and show no other outward symptoms. There are no exercise restrictions for these children.The larger the defect, the more likely children will have symptoms. Infants with a large ASD may develop congestive heart failure. However, if the defect is small (less than 2 millimeters), there is a very high probability that it will close on its own. Surgery is not usually performed in these cases.Larger ASDs, which are more likely to remain open, cause an excessive flow of blood into the right atrium, right ventricle and pulmonary artery (see animation). This enlarges the right atrium and right ventricle (dilatation) and causes high pressures in the pulmonary artery that will eventually distort its shape and may rarely damage the blood vessels in the lungs.The enlargement of the right atrium can result in abnormal heart rhythms. These effects are not reversed by closing the ASD after the damage has been done. Heart failure is likely when a person with an untreated ASD reaches young adulthood.
Variations of ASD Atrial Septal Defects are divided into three different types on the basis of the position of the hole (or holes) in the atrial septum.The first type of ASD is known as ostium primum defect, or simply, primum (number 1 in the diagram). In this kind of defect, the hole is located in the lower part of the atrial septum, near the tricuspid valve, which opens into the right ventricle.The most common type of ASD (accounting for 50-70% of all cases) is known as ostium secundum defect, or simply, secundum (2). In this case, the hole is located near the center of the atrial septum.The third type of ASD is known as a sinus venosus defect, in which the hole is located near one of the two places where the vena cava (the vein that carries blood from the body to the heart) enters the right atrium. The two kinds of sinus venosus defect are distinguished by whether the hole is near the entry point of the superior vena cava (SVC) (superior vena caval type - 3 in diagram) or of the inferior vena cava (IVC) (inferior vena caval type - 4 in diagram).
How Is It Treated? Babies with congestive heart failure because of volume overload to the lungs may be treated with diuretics such as Lasix (Furosemide) and Aldactone (Spironolactone). These medications can help to reduce the volume of fluid in the lung, which makes it easier for the infant to breathe and eat.Digoxin may also be prescribed. It increases the squeeze (contraction) of the heart muscle and helps it to function more effectively.For those infants whose feeding is affected, nutritional additives may be used to fortify the baby's milk. In more severe cases, nourishment with a naso-gastric tube may be necessary.If slow growth and other symptoms continue despite treatment with medication, surgery may be required to close the ventricular septal defect. The benefits of this surgery are usually dramatic: paleness and rapid breathing are corrected and the rate of growth becomes normal. The mortality risk in this type of surgery is very low.VSDs may be closed by patching (see animation) or suturing during open heart surgery. Small defects may be closed with simple sutures using a monofilament thread made of Prolene or Polypropylene. Larger holes may be covered with patches made of pieces of pericardium (the membrane that covers the heart) or of silk or a synthetic material such as Dacron or Teflon.
Information obtained from Cove Heart Foundation: Congenital Heart Disease
Thursday, July 2, 2009
Definition: Scaphocephaly (also know as, dolichocephaly) refers to the condition where the head is disproportionately long and narrow (see cranial index. Scaphocephaly can result from the premature fusion of the sagittal suture (see craniosynostosis) or from external deformation. Scaphocephaly is particularly common among infants who are born prematurely.
Diagnosis: The diagnosis begins with an examination by a pediatrician, pediatric neurosurgeon or craniofacial surgeon. A primary objective of the examination is to rule out craniosynostosis (a condition that requires surgical correction). The initial examination involves questions about gestation, birth, in utero and post-natal positioning (for example, sleeping position). The physical examination includes inspection of the infant's head and may involve palpation (carefully feeling) of the child's skull for suture ridges and soft spots (the fontanelles). The physician may also request x-rays or computerized tomography (a CAT scan, a series of photographic images of the skull). These images provide the most reliable method for diagnosing premature fusion of the sagittal suture (craniosynostosis). In addition, the physician may make (or order) a series of measurements from the child's face and head [more on cranial anthropometry]. These measurements will be used to assess severity and monitor treatment.
Treatment: The treatment of scaphocephaly depends upon the etiology (cause) of the condition: Scaphocephaly resulting from fusion of the sagittal suture (craniosynostosis) must be treated surgically. Parents should consult a pediatric neurosurgeon or a craniofacial surgeon to discuss treatment option. Depending upon severity, scaphocephaly resulting from external/positional deformation can be treated with repositioning and/or head banding. Parents should consult a pediatrician, a pediatric neurosurgeon or a craniofacial surgeon for information on repositioning and/or for referral and a prescription for head banding.
Plagiocephaly Parents Support
Parents of Premature Babies Inc. (Preemie-L)
The craniofacial area includes the base of the skull, the facial skeleton and underlying soft tissues, the skull vaults and the scalp. Craniofacial surgery involves repairing damage caused by serious injuries as well as congenital deformities and abnormal growths such as tumors.
Congenital deformities include
- clefts of the lip and palate: In these conditions, all of the parts of the lip and roof of the mouth are present, but they have failed to fuse in a normal fashion. Clefts can appear with varying severity: a cleft lip can be incomplete with a fractional notching of the lip, or complete, extending through the lip and into the nose. ear deformities: In these conditions, the outer ear may be underdeveloped, misshaped, or completely absent.
- premature fusing of the bones of the head in young children: In the normal infant skull, cracks or “sutures” appear in between bones of the head to allow for brain growth. When one of these sutures closes prematurely, the brain continues to grow, but pushes out toward the area of the skull where the sutures are still open. The result is a malformation of the skull and/or face.
- misshapen jaws: often caused by misalignment of the teeth and jaws referred to as malocclusion, or mild hypoplasia (inadequate tissue development) which can appear as a recessed upper jaw or other underdeveloped bony area of the face.
- facial asymmetries: or hemifacial microsomia, a condition wherein one side of the face is smaller than the other, due to underdevelopment of bone and/or cartilage.
After appropriate assessment, surgical treatment may be recommended and this will vary considerably depending on what the particular problem is. Sometimes craniofacial surgery for deformity can be carried out without making visible scars on the face. Craniofacial surgeries carry varying degrees of risk, depending on the particular problem. Sometimes bone or cartilage grafts need to be harvested from other areas of the body such as the ribs.
***See pics below...note: none of these pictures are of any patients that I have cared for; they are all from the internet.
Tuesday, June 23, 2009
What It Is
The aorta is the body's main artery. It distributes oxygen-rich blood to all parts of the body except the lungs. The first branches of the aorta go to the upper body (arms and head). After that, blood goes to the lower body (abdomen and legs). Coarctation of the aorta is a narrowing of the aorta between the upper-body artery branches and the branches to the lower body. This blockage can increase blood pressure in your arms and head, reduce pressure in your legs and seriously strain your heart. Aortic valve abnormalities often accompany coarctation.
The narrowing can be removed by surgery or sometimes by a nonsurgical balloon dilation in the cardiac catheterization lab. Aortic coarctation may return even after successful surgery or balloon dilation. This isn't uncommon if your repair was done when you were a newborn. (It's uncommon if it was repaired when you were a child.) If you've reached your full adult size and have no blood pressure difference between your arms and legs, it's highly unlikely that your aorta will become obstructed again.
Recurrent coarctation is usually treated with nonsurgical balloon dilation or by implanting a stent using cardiac catheterization.
Medical After the coarctation is repaired, you'll need your blood pressure checked every 1-2 years. The reason is that you're at higher risk of developing generalized high blood pressure or problems with your aortic valve. Both of these can be checked for during your routine cardiology visits.
Activity Restrictions Depending on your blood pressure at rest or during exercise, you may be advised to avoid some forms of strenuous exercise. Heavy isometric exercise, such as power weightlifting, may be a particular concern if your pressure is elevated. In general, you don't need to restrict activity if your arm and leg blood pressures are normal. (See the Physical Activity section.) Ask your cardiologist if you should limit any activity.
You may need antibiotics before certain dental or surgical procedures if you have an aortic obstruction or aortic valve abnormality. (See the section on Endocarditis.)
Pregnancy Most women with repaired coarctation shouldn't have any difficulties, unless there's residual aortic obstruction or generalized high blood pressure. However, if you have persistent coarctation or any associated problems that might affect you or your baby, check with your physician before considering getting pregnant. (See the section on Pregnancy.)
Problems You May Have
Symptoms Coarctation of the aorta usually doesn't have symptoms. However, if the obstruction becomes severe, you may not tolerate exercise well. You could have a headache or leg pains after exertion. You also might have chest pain or palpitations. Tell your cardiologist promptly about any activity-related symptoms.
Will You Need More Surgery?
The need for surgery or catheterization depends mostly on the level of pressure in your arms and legs when you're resting and, under some circumstances, during exercise. If your arm and leg blood pressures are normal, you probably won't need more intervention.
Information Obtained from The American Heart Association
Thursday, January 8, 2009
AV Nodal Reentrant Tachycardia
AV Nodal Reentrant Tachycardia (AVNRT) is another common form of SVT. In AVNRT, there is an extra electrical pathway in or near the AV node. If an electrical impulse is conducted in this pathway, it may direct the impulse through both the AV node and the extra pathway in a repeating, circular pattern. The AV node and the extra pathway are located essentially in the center of the heart. This causes the upper and lower chambers to beat rapidly at the same time instead of in the normal sequence (upper chambers beating first, followed by the lower chambers).
Rapid AV Nodal Conduction
In some SVTs the atria may spontaneously generate multiple rapid impulses. Many of these impulses can travel through the AV node to the ventricles in an erratic manner. As a result, the heart rhythm can become irregular and rapid. If this happens, the heart will not pump blood efficiently.
Atrial flutter is one of the more common SVTs, where the upper chambers of the heart (atria) beat anywhere from 240 to 320 times per minute. This arrhythmia is similar to atrial fibrillation, as it originates entirely within the upper chambers, but it produces a more organized, regular rhythm. It is usually not harmful, but can result in symptoms such as palpitations, shortness of breath, chest tightness, fatigue, and lightheadedness. If left untreated, atrial flutter may eventually lead to conditions associated with other arrhythmias that result in abnormally high heart rates.
Even though the upper chambers are beating rapidly, the AV node allows only one-half to one-third of the electrical impulses to reach the hearts lower chambers (the ventricles). This prevents the arrhythmia from becoming life-threatening, and keeps the wrist pulse rate at only 100 to 150 beats per minute. This arrhythmia can last for hours or days; therefore, most people with atrial flutter require treatment.
Every normal heart has a normal rhythm. That rhythm varies from person to person. In most healthy people, the heart at rest beats about 60 to 100 times per minute. A small bunch of heart cells called the sinoatrial node keeps time.
If the inflammation and infection spread through the wall of the appendix, the appendix can rupture. After rupture, infection can spread throughout the abdomen; however, it usually is confined to a small area surrounding the appendix (forming a peri-appendiceal abscess).
Sometimes, the body is successful in containing ("healing") the appendicitis without surgical treatment if the infection and accompanying inflammation do not spread throughout the abdomen. The inflammation, pain and symptoms may disappear. This is particularly true in elderly patients and when antibiotics are used. The patients then may come to the doctor long after the episode of appendicitis with a lump or a mass in the right lower abdomen that is due to the scarring that occurs during healing. This lump might raise the suspicion of cancer.
What are the complications of appendicitis?
A less common complication of appendicitis is blockage of the intestine. Blockage occurs when the inflammation surrounding the appendix causes the intestinal muscle to stop working, and this prevents the intestinal contents from passing. If the intestine above the blockage begins to fill with liquid and gas, the abdomen distends and nausea and vomiting may occur. It then may be necessary to drain the contents of the intestine through a tube passed through the nose and esophagus and into the stomach and intestine.
A feared complication of appendicitis is sepsis, a condition in which infecting bacteria enter the blood and travel to other parts of the body. This is a very serious, even life-threatening complication. Fortunately, it occurs infrequently.
As appendiceal inflammation increases, it extends through the appendix to its outer covering and then to the lining of the abdomen, a thin membrane called the peritoneum. Once the peritoneum becomes inflamed, the pain changes and then can be localized clearly to one small area. Generally, this area is between the front of the right hip bone and the belly button. The exact point is named after Dr. Charles McBurney--McBurney's point. If the appendix ruptures and infection spreads throughout the abdomen, the pain becomes diffuse again as the entire lining of the abdomen becomes inflamed.
White Blood Cell Count
Abdominal X-Ray An abdominal x-ray may detect the fecalith (the hardened and calcified, pea-sized piece of stool that blocks the appendiceal opening) that may be the cause of appendicitis. This is especially true in children.
Computerized tomography (CT) Scan In patients who are not pregnant, a CT Scan of the area of the appendix is useful in diagnosing appendicitis and peri-appendiceal abscesses as well as in excluding other diseases inside the abdomen and pelvis that can mimic appendicitis.
Laparoscopy Laparoscopy is a surgical procedure in which a small fiberoptic tube with a camera is inserted into the abdomen through a small puncture made on the abdominal wall. Laparoscopy allows a direct view of the appendix as well as other abdominal and pelvic organs. If appendicitis is found, the inflamed appendix can be removed with the laparascope. The disadvantage of laparoscopy compared to ultrasound and CT is that it requires a general anesthetic.
There is no one test that will diagnose appendicitis with certainty. Therefore, the approach to suspected appendicitis may include a period of observation, tests as previously discussed, or surgery.
The diagnosis of appendicitis also can be difficult because other inflammatory problems may mimic appendicitis. Therefore, it is common to observe patients with suspected appendicitis for a period of time to see if the problem will resolve on its own or develop characteristics that more strongly suggest appendicitis or, perhaps, another condition.
Pelvic inflammatory disease. The right fallopian tube and ovary lie near the appendix. Sexually active women may contract infectious diseases that involve the tube and ovary. Usually, antibiotic therapy is sufficient treatment, and surgical removal of the tube and ovary are not necessary. Inflammatory diseases of the right upper abdomen. Fluids from the right upper abdomen may drain into the lower abdomen where they stimulate inflammation and mimic appendicitis. Such fluids may come from a perforated duodenal ulcer, gallbladder disease, or inflammatory diseases of the liver, e.g., a liver abscess.
Right-sided diverticulitis. Although most diverticuli are located on the left side of the colon, they occasionally occur on the right side. When a right-sided diverticulum ruptures it can provoke inflammation they mimics appendicitis.
Kidney diseases. The right kidney is close enough to the appendix that inflammatory problems in the kidney-for example, an abscess-can mimic appendicitis.
How is appendicitis treated? Once a diagnosis of appendicitis is made, an appendectomy usually is performed. Antibiotics almost always are begun prior to surgery and as soon as appendicitis is suspected.
There is a small group of patients in whom the inflammation and infection of appendicitis remain mild and localized to a small area. The body is able not only to contain the inflammation and infection but to resolve it as well. These patients usually are not very ill and improve during several days of observation. This type of appendicitis is referred to as "confined appendicitis" and may be treated with antibiotics alone. The appendix may or may not be removed at a later time.
On occasion, a person may not see their doctor until appendicitis with rupture has been present for many days or even weeks. In this situation, an abscess usually has formed, and the appendiceal perforation may have closed over. If the abscess is small, it initially can be treated with antibiotics; however, the abscess usually requires drainage. A drain (a small plastic or rubber tube) usually is inserted through the skin and into the abscess with the aid of an ultrasound or CT scan that can determine the exact location of the abscess. The drain allows pus to flow from the abscess out of the body. The appendix may be removed several weeks or months after the abscess has resolved. This is called an interval appendectomy and is done to prevent a second attack of appendicitis.
Newer techniques for removing the appendix involve the use of the laparoscope. The laparoscope is a thin telescope attached to a video camera that allows the surgeon to inspect the inside of the abdomen through a small puncture wound (instead of a larger incision). If appendicitis is found, the appendix can be removed with special instruments that can be passed into the abdomen, just like the laparoscope, through small puncture wounds. The benefits of the laparoscopic technique include less post-operative pain (since much of the post-surgery pain comes from incisions) and a speedier return to normal activities. An additional advantage of laparoscopy is that it allows the surgeon to look inside the abdomen to make a clear diagnosis in cases in which the diagnosis of appendicitis is in doubt. For example, laparoscopy is especially helpful in menstruating women in whom a rupture of an ovarian cysts may mimic appendicitis.
If the appendix is not ruptured (perforated) at the time of surgery, the patient generally is sent home from the hospital after surgery in one or two days. Patients whose appendix has perforated are sicker than patients without perforation, and their hospital stay often is prolonged (four to seven days), particularly if peritonitis has occurred. Intravenous antibiotics are given in the hospital to fight infection and assist in resolving any abscess.
Occasionally, the surgeon may find a normal-appearing appendix and no other cause for the patient's problem. In this situation, the surgeon may remove the appendix. The reasoning in these cases is that it is better to remove a normal-appearing appendix than to miss and not treat appropriately an early or mild case of appendicitis.
Another complication of appendectomy is an abscess, a collection of pus in the area of the appendix. Although abscesses can be drained of their pus surgically, there are also non-surgical techniques, as previously discussed.
Recently it has been hypothesized that some episodes of appendicitis-like symptoms, especially recurrent symptoms, may be due to an increased sensitivity of the intestine and appendix from a prior episode of inflammation. That is, the recurrent symptoms are not due to recurrent episodes of inflammation. Rather, prior inflammation has made the nerves of the intestines and appendix or the central nervous system that innervate them more sensitive to normal stimuli, that is, with stimuli other than inflammation. This will be a difficult, if not impossible, hypothesis to confirm.
Appendectomy At A Glance
The appendix is a small, worm-like appendage attached to the colon.
Appendicitis occurs when bacteria invade and infect the wall of the appendix.
The most common complications of appendicitis are abscess and peritonitis.
The most common manifestations of appendicitis are pain, fever, and abdominal tenderness.
Appendicitis usually is suspected on the basis of a patient's history and physical examination; however, a white blood cell count, urinalysis, abdominal x-ray, barium enema, ultrasonography, CT, and laparoscopy also may be helpful in diagnosis.
Due to the varying size and location of the appendix and the proximity of other organs to the appendix, it may be difficult to differentiate appendicitis from other abdominal and pelvic diseases.
The treatment for appendicitis usually is antibiotics and appendectomy (surgery to remove the appendix).
Complications of appendectomy include wound infection and abscess.