Babies' blood vessels start off highly reactive and unstable. A mild change in temperature or position or mood can cause swift changes in the diameters of the blood vessels, with resultant color changes of the overlying skin. The most extraordinary example of this is the harlequin effect.
A sharp line from the forehead to the pubis divides the body into 2 vertical halves. One side turns dark red, the other quite pale. The overall effect is reminiscent of the bold patches of color on a harlequin costume.
This rare but dramatic event only occurs in the immediate newborn period. It usually begins when the baby is positioned on her side. The upper half of the body becomes pale, and the lower half deep red. Changing her position can reverse the pattern. If she moves a lot, the muscle activity will erase the color changes (rather like shaking an Etch-a-sketch toy).
The harlequin color change is most common in low birthweight infants, but can occur in any child. Babies who experience this once will often take on the harlequin pattern multiple times.
Still, the condition is as temporary as being a newborn. The harlequin color change is considered harmless and not associated with any permanent problem.
Harlequin Color Change
My Thoughts on.... "Will my baby know he/she is loved, even if I can't be there?"
This is a question most NICU parents ask themselves, but may not actually ask their nurse.... And here's my thought:
I truly believe that babies know the spirit of the people around them. We've got more than 120 nurses in our unit alone, and although there are 120 different personalities with 120 different levels of interpersonal skills, one fact remains: We love our babies. The Good Lord knows moms and dads can't be with them all the time in the hospital; and I wholeheartedly believe that He takes care of that little minor detail. For even the least of His creatures of the field He provides for..... and I fully believe that babies know they are in the presence of a loving soul (be it their nurses, the doctors, or even the security guards that "ooh and ahh" over how cute the babies are during their nightly rounds....) it doesn't matter what loving spirit they are in the presence of, I believe they can feel it. Someone (much more powerful than us) will make sure our babies feel love and acceptance.... even when their parents are unable to be at their bedside.
Matthew 10:29-31 (New International Version)
29 Are not two sparrows sold for a penny? Yet not one of them will fall to the ground apart from the will of your Father. 30 And even the very hairs of your head are all numbered. 31 So don't be afraid; you are worth more than many sparrows.
Tetralogy of Fallot
Tetralogy of Fallot / TOF is a cardiac anomaly that refers to a combination of four related heart defects that commonly occur together. The four defects include:
1. Pulmonary stenosis (narrowing of the pulmonary valve and outflow tract or area below the valve, that creates an obstruction (blockage) of blood flow from the right ventricle to the pulmonary artery
2. Ventricular septal defect / VSD
3. Overriding aorta (the aortic valve is enlarged and appears to arise from both the left and right ventricles instead of the left ventricle as occurs in normal hearts)
4. Right ventricular hypertrophy (thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping at high pressure)
A small percentage of children with tetralogy of Fallot may also have additional ventricular septal defects, an atrial septal defect / ASD or abnormalities in the branching pattern of their coronary arteries. Some patients with tetralogy of Fallot have complete obstruction to flow from the right ventricle, or pulmonary atresia. Tetralogy of Fallot may be associated with chromosomal abnormalities, such as 22q11 deletion syndrome.
The pulmonary stenosis and right ventricular outflow tract obstruction seen with tetralogy of Fallot usually limits blood flow to the lungs. When blood flow to the lungs is restricted, the combination of the ventricular septal defect and overriding aorta allows oxygen-poor blood ("blue") returning to the right atrium and right ventricle to be pumped out the aorta to the body.
This "shunting" of oxygen-poor blood from the right ventricle to the body results in a reduction in the arterial oxygen saturation so that babies appear cyanotic, or blue. The cyanosis occurs because oxygen-poor blood is darker and has a blue color, so that the lips and skin appear blue.
The extent of cyanosis is dependent on the amount of narrowing of the pulmonary valve and right ventricular outflow tract. A narrower outflow tract from the right ventricle is more restrictive to blood flow to the lungs, which in turn lowers the arterial oxygen level since more oxygen-poor blood is shunted from the right ventricle to the aorta.
Signs and Symptoms of Tetralogy of Fallot:
Tetralogy of Fallot is most often diagnosed in the first few weeks of life due to either a loud murmur or cyanosis. Babies with tetralogy of Fallot usually have a patent ductus arteriosus at birth that provides additional blood flow to the lungs, so severe cyanosis is rare early after birth.
As the ductus arteriosus closes, which it typically will in the first days of life, cyanosis can develop or become more severe.
The degree of cyanosis is proportional to lung blood flow and thus depends upon the degree of narrowing of the outflow tract to the pulmonary arteries.
Rapid breathing in response to low oxygen levels and reduced pulmonary blood flow can occur. The heart murmur, which is commonly loud and harsh, is often absent in the first few days of life.
The arterial oxygen saturation of babies with tetralogy of Fallot can suddenly drop markedly. This phenomenon, called a "tetralogy spell," usually results from a sudden increased constriction of the outflow tract to the lungs so that pulmonary blood flow is further restricted. The lips and skin of babies who have a sudden decrease in arterial oxygen level will appear acutely more blue.
Children having a tetralogy spell will initially become extremely irritable in response to the critically low oxygen levels, and they may become sleepy or unresponsive if the severe cyanosis persists.
A tetralogy spell can sometimes be treated by comforting the infant and flexing the knees forward and upward. Most often, however, immediate medical attention is necessary.
Diagnosis of Tetralogy of Fallot:
When a newborn baby with significant cyanosis is first seen, they are often placed in supplemental oxygen. The increased oxygen improves the child's oxygen levels in cases of lung disease, but breathing extra oxygen will have little effect on the oxygen levels of a child with tetralogy of Fallot.
Failure to respond to this "hyperoxia test" is often the first clue to suspect a cyanotic cardiac defect. Infants with tetralogy of Fallot can have normal oxygen levels if the pulmonary stenosis is mild (referred to as "pink" tetralogy of Fallot). In these children, the first clue to suggest a cardiac defect is detection of a loud murmur when the infant is examined.
Once congenital heart disease is suspected, echocardiography can rapidly and accurately demonstrate the four related defects characteristic of tetralogy of Fallot.
Cardiac catheterization is occasionally required to evaluate the size and distribution of the pulmonary arteries and to clarify the branching patterns of the coronary arteries. Catheterization can also demonstrate whether patients have pulmonary blood flow supplied by an abnormal blood vessel from the aorta (aortopulmonary collateral).
Treatment for Tetralogy of Fallot:
Once tetralogy of Fallot is diagnosed, the immediate management focuses on determining whether the child's oxygen levels are in a safe range.
If oxygen levels are critically low soon after birth, a prostaglandin infusion is usually initiated to keep the ductus arteriosus open which will provide additional pulmonary blood flow and increase the child's oxygen level.
These infants will usually require surgical intervention in the neonatal period. Infants with normal oxygen levels or only mild cyanosis are usually able to go home in the first week of life.
Complete repair is usually done electively when the children are about six months of age, as long as the oxygen levels remain adequate. Progressive or sudden decreases in oxygen saturation may prompt earlier corrective repair.
Surgical correction of the defect is always necessary. Occasionally, patients will require a surgical palliative procedure prior to the final correction.
Corrective repair of tetralogy of Fallot involves closure of the ventricular septal defect with a synthetic Dacron patch so that the blood can flow normally from the left ventricle to the aorta.
The narrowing of the pulmonary valve and right ventricular outflow tract is then augmented (enlarged) by a combination of cutting away (resecting) obstructive muscle tissue in the right ventricle and by enlarging the outflow pathway with a patch.
In some babies, however, the coronary arteries will branch across the right ventricular outflow tract where the patch would normally be placed. In these babies an incision in this area to place the patch would damage the coronary artery so this cannot safely be done.
When this occurs, a hole is made in the front surface of the right ventricle (avoiding the coronary artery) and a conduit (tube) is sewn from the right ventricle to the bifurcation of the pulmonary arteries to provide unobstructed blood flow from the right ventricle to the lungs.
Treatment for Tetralogy of Fallot: Results
Survival of children with tetralogy of Fallot has improved dramatically over recent decades. In the absence of confounding risk factors, more than 95 percent of infants with tetralogy of Fallot successfully undergo surgery in the first year of life.
Surgical repair is more difficult when the pulmonary arteries are critically small or when the lung blood flow is supplied predominantly by aortopulmonary collaterals.
Most babies are fairly sick in the first few days after surgery, since the right ventricle is "stiff" from the previous hypertrophy (thickness) and because an incision is made into the muscle of the ventricle, making the muscle temporarily weaker.
This right ventricular dysfunction usually improves significantly in the days following surgery. Patients may also have rhythm problems after surgery.
An abnormally fast rhythm (called junctional tachycardia) may occur and may require treatment with medication or the use of a temporary pacemaker. This abnormal rhythm is usually temporary and the rhythm generally will return to normal as the right ventricle recovers.
Patients are also at risk for slow heart rates after surgery due to heart block. Heart block may be caused by injury to or inflammation of the conduction system in the heart. In many patients, the conduction improves and normal rhythm returns. Rarely, a permanent pacemaker may be necessary.
Since a normal circulation is produced by the tetralogy of Fallot repair procedure, long-term cardiac function is usually excellent.
However, the repair does usually leave the child with a leaky (insufficient) pulmonary valve. In this situation, after the right ventricle pumps blood out to the pulmonary arteries, some of the blood will flow back into the right ventricle. This creates extra volume in the right ventricle forcing it to work harder and become dilated.
In a small percentage of children, this pulmonary insufficiency can lead to diminished function of the right ventricle. Symptoms of fatigue, especially with exercise, may develop. In these cases, replacement of the pulmonary valve is often recommended.
Patients who have had repair of tetralogy of Fallot can also redevelop a narrowing at the outflow area or in the branch (left or right) pulmonary arteries, which will cause the right ventricle to pump at abnormally high pressures.
If these problems occur, surgical intervention to further widen the outflow tract or pulmonary arteries may be necessary. Narrowing the pulmonary arteries can sometimes be treated without surgery, with balloon dilation of the vessels during cardiac catheterization.
EXCELLENT GRAPHIC DESCRIPTION OF TOF FOUND HERE!
Full Article found Here
MECP2 Gene Duplication
The following information was obtained from here.
The syndrome was first discovered in 2005.
The MECP2 Duplication Syndrome is usually caused by duplication of DNA on the Xq28 region of the chromosome. Most reported duplications are sub-microscopic (cannot be seen with a microscope by standard chromosome analysis) and span 0.3 to 4 megabases of DNA in size. Many cases of “functional disomy” of the Xq28 region (meaning an extra copy of the Xq28 region that occurs somewhere other than directly at Xq28) due to chromosome Xq-Yq translocation, chromosome Xq-Xp rearrangements, and chromosome X-autosomal chromosome translocations have also been reported. Many of these cases were reported before the name “MECP2 Duplication Syndrome” was assigned.
MECP2 Duplication Syndrome is most commonly inherited in an X-linked manner. Most affected males have inherited the MeCP2 duplication from a carrier mother, however, spontaneous (also known as de novo) duplications have been reported. If the mother has a MECP2 duplication, the chance of transmitting it in each pregnancy is 50%. In the case of de novo duplications, the possibility exists that the mother can have mosaicism and therefore only carry the duplicated X chromosome in her ova or egg cells (or only in some of these cells). Because ova or germ-line mosaicism cannot be ruled out in de novo cases, the risk to subsequent pregnancies in de novo cases is approximated to be about 5%. Because the duplication affects the X chromosome, MECP2duplication syndrome occurs in all males who have the duplication. In females who have symptoms, it is thought that the X chromosome with the duplicated allele is active in a number of cells (one copy of the X chromosome is turned off in every somatic cell in females, a normal process called X chromosome inactivation).
When MECP2 Duplication Syndrome results from a duplication that is present on the Y chromosome, or one of the autosomes (chromosomes 1-22), then it is important to assess if either parent is a carrier. To date, no cases of men transmitting the duplication have been reported. This is because, as far as we know, all boys/men who have the duplication have MECP2 Duplication Syndrome. Therefore, in the majority of boys who have the duplication syndrome due to the Xq28 duplication being present on the Y chromosome, the duplication event likely occurred spontaneously when the sperm developed in the father. Just like in females, however, men can have germ-line mosaicism, and so the risk to subsequent pregnancies in de novo cases is estimated to be 5%. If the Xq28 duplication is carried on one of the autosomes, then the duplication may be de novo, carried by the mother, or be a result of germ-line mosaicism.
The Xq28 region contains several genes, and one of these is MECP2(methyl-CpG binding protein 2). The beginning and end of the duplicated region (breakpoints) vary among different individuals, but the finding that MECP2 is the only duplicated gene in all patients with a significant role in the nervous system supports its important role in causing MECP2 Duplication Syndrome. Furthermore, genetically engineered mice that have twice the normal levels of MeCP2 protein develop the features of the duplication syndrome. These studies pinpoint increased levels of MeCP2 (rather than other proteins) as the culprit of this syndrome. This is why the syndrome is now called “MECP2Duplication Syndrome.”
It is important to note however, that some boys have larger duplications that include many other genes. The full extent of phenotypes due to duplication of other genes is not completely understood. We do know, however, that boys who also have duplication of the Filamin A (FLNA) gene are at risk for intestinal pseudo-obstruction and perhaps other phenotypes that have been associated with other types of mutations inFLNA. Therefore, it is helpful for all boys with MECP2 Duplication Syndrome to have a study to map the extent and gene content of their duplication. When detailed studies are performed, some boys are found to have triplication of Xq28 which appears to result in a syndrome that is more severe, especially when the MECP2 gene is included in the triplicated region. Finally, some cases of duplication of Xq28 actually have breakpoints (ends) that are located within the MECP2 gene. In these cases, it may be that disruption of one copy of the MECP2 gene, rather than duplication, causes the phenotype.
Characteristics of MECP2 duplication in affected boys:
*Hypotonia
*As a result of hypotonia, motor development including sitting, crawling, and walking is severely delayed or impaired
*Mental retardation (in 100%)
*Recurrent respiratory infections (in 75%)
*Epilepsy (in 50%)
*Constipation and/or reflux
*Limited or absent speech
*Autistic behaviors
*Ataxia
*Progressive spasticity (usually noticed in the legs more than the arms)
*Stereotyped movements of hands
*Teeth grinding
*Developmental regression occurs in some boys
Characteristics of FLNA duplication:
*Intestinal pseudo-obstruction
*Perhaps other problems
PLAYING FOR PREEMIES SEPTEMBER 24
1st Event: We are going to pre-sell game t-shirts in the weeks leading up. (Grey shirt with Melissa George and game logo).
2nd Event: Four businesses to sponsor one quarter of the game for $250. Those 4 sponsors would get their logo on the back of the game t-shirts.
3rd: Amy George will be our special guest for the pep rally that day. High School Pep Rally will start at 2:15. All three administrators are going to take a pie in the face from 3 lucky students. Students can buy a chance to "Pie the Principal" for $1 during the week.
4th: Mr. Johns, Principal at Cedar Hill Elementary is taking a pie in the face too. Students can buy a chance to "Pie the Principal" for $1 during the week. We are doing a mini pep rally at Cedar Hill at 8:30 that morning to draw the winner.
5th: Dr. Casey Lewis, Principal at Johnson Elementary is taking a pie in the face too. Students can buy a chance to "Pie the Principal" for $1 during the week. We are doing a mini pep rally at Johnson at 9:30 that morning to draw the winner as well.
6th: Huntsville Hospital Foundation is setting up an informational and donation booth at the game that night. The NICU nurses will serve as honorary captains for the coin toss.
Special Invitation: You are all invited to participate in any and or all of these events. The NICU is very special to me and my wife as our 5 month old daughter spent the first 52 days of her life there. We are so grateful for the nurses and doctors that made our stay as comforting as it could be in such a stressful time. We are excited about the opportunity to give back to such a great group of people..... Rusty Bates, Assistant Principal/Athletic Director, Ardmore High School
Polydactyly or Extra Digits
Polydactyly literally means "extra digits." There may be an extra thumb, small finger, or, less commonly, an extra digit in the central part of the hand. Polydactyly is one of the most common congenital hand anomalies.
Does polydactyly cause my baby any pain?
No, typically there is no pain associated with polydactyly.
What are the different types of polydactyly?
Radial, or pre-axial polydactyly means that there is an extra thumb; there are several different types of radial polydactyly. Ulnar, or post-axial polydactyly means that there is an extra small finger; there may be a well-formed extra small finger, or just a poorly-formed extra digit attached by a thin stalk of soft tissue. Central polydactyly means that the extra digit is in the central part of the hand, between the thumb and small finger.
Who gets polydactyly?
Polydactyly can occur in any newborn infant. Most types of radial polydactyly are not inherited. Postaxial polydactyly with a small, poorly-formed extra digit is ten times more common in African-Americans than in Caucasians and is inherited as an autosomal dominant trait (that is, there is a 50% chance of polydactyly in the children of an affected individual). However, postaxial polydactyly with a well-formed extra digit is equally common in all ethnicities. Central polydactyly is inherited as an autosomal dominant condition with variable expression, meaning that it may be more or less severe from one generation to the next.
What causes polydactyly?
When the hands and feet are developing in the womb, they start out as flat "paddles" that then normally separate into five digits. Polydactyly occurs when this separation process is excessive, and an extra "segment" is created. This may be caused by a genetic abnormality or by environmental influences.
What are the main issues related to polydactyly?
The primary issue in most types of polydactyly is function of the hand and digits; appearance of the hand is also an issue, but is secondary to function.
Are there other problems that occur commonly with polydactyly?
Certain rare types of preaxial polydactyly are associated with other problems, such as blood disorders, heart abnormalities, or craniofacial abnormalities. Postaxial polydactyly in which the extra digit is well-formed is associated with polydactyly of the feet, also.
What is the treatment for babies with polydactyly?
Polydactyly is treated surgically. In preaxial polydactyly, a single thumb must be reconstructed from the two duplicated, or split, thumbs. This procedure involves reconstructing the skin and soft tissues, the tendons, joints, and ligaments to create a single thumb. In postaxial polydactyly, when the extra digit is attached only by a narrow stalk of soft tissue, this may be removed either with a minor operation or, if the stalk is narrow enough, by ligating the stalk in the nursery. When the extra digit is well-formed, the surgery is more involved and may involve reconstruction of soft tissues, tendons, joints, and ligaments as in preaxial polydactyly. Finally, central polydactyly requires a complex surgical procedure to reconstruct the hand. Again, the soft tissues, tendons, ligaments, and joints must be reconstructed. In some of these cases, more than one operation is required.
CONGENITAL CHYLOTHORAX
Congenital Chylothorax
Congenital Chylothorax (CC) is the accumulation of lymphatic fluid in the pleural space around the lungs. CC is usually a result of blockage of the thoracic duct during pregnancy. Infants with CC receiving regular formula feedings have persistent accumulations of fluid around the lungs because the production of lymphatic fluid is increased tenfold following regular formula feedings.
TREATMENT
Mechanical Ventilation to help the infant's lungs expand fully.
Thoracenteses which is removing the fluid from around the lungs.
Inserting a chest tube for drainage may be needed in some cases with respiratory distress.
Special Formulas (such as Enfaport) that consists of low-fat high-protein milk supplemented with MCT oil is used if the infant is able to take nutrition by mouth, or
IV nutrition combined with drainage of the space around the lungs is utilized.
Hopefully, with conservative treatment, the accumulation of fluid around the lungs resolves on its own, if not, surgical interventions will be considered.
SURGICAL CONSIDERATIONS
Surgical interventions might be considered if the chylothorax does not resolve or becomes worse. Surgical interventions are not risk free and not always successful, especially when associated with a malformed thoracic duct or a thoracic duct that does not function properly, or if infection is involved.
Kawasaki Disease
Kawasaki disease (KD), also known as Kawasaki syndrome, is a serious illness characterized by inflammation of blood vessels throughout the body that primarily affects young children and infants. Kawasaki disease is the leading cause of acquired heart disease in children. Although about 80 percent of patients are under five years of age, older children and teenagers can also get KD, but this is uncommon. KD is more common in boys than girls, and the majority of cases are diagnosed in the winter and early spring. It is not contagious.
The disease is named after Tomisaku Kawasaki, a Japanese pediatrician who first described the illness in the medical literature in 1967. Although it is more prevalent among children of Asian and Pacific Island descent, KD affects people of all racial and ethnic groups. It is estimated that more than 4,200 children are diagnosed with Kawasaki Disease in the U.S. each year. The cause of KD is unknown, although an agent, like a virus, is suspected. There is no currently accepted scientific evidence that KD is caused by carpet cleaning or chemical exposure.
How is it treated?
Treatment for Kawasaki disease starts in the hospital. It may include:
Immunoglobulin (IVIG) medicine. This is given through a vein (intravenous, or IV) to reduce inflammation of the blood vessels.
Aspirin to help pain and fever and to lower the risk of blood clots.
Aspirin therapy is often continued at home. Because of the risk of Reye syndrome, do not give aspirin to your child without talking to your doctor. If your child is exposed to or develops chickenpox or flu (influenza) while taking aspirin, talk with your doctor right away.
How serious is Kawasaki disease?
Most children with Kawasaki disease get better and have no long-term problems. Treatment is important because it shortens the illness and reduces the chances of problems.
Some children who are not treated will have damage to the coronary arteries. An artery may get too large and form an aneurysm. Or the arteries may narrow or develop blood clots. A child who has damaged coronary arteries may be more likely to have a heart attack as a young adult.
Kawasaki Disease is characterized by an inflammation of the blood vessels throughout the body. There is no specific test for KD; doctors make a clinical diagnosis based on a collection of symptoms and physical findings. Early symptoms of KD include:
Fever that lasts for five or more days
Rash, often worse in the groin area
Red bloodshot eyes, without drainage or crusting
Bright red, swollen, cracked lips, “strawberry” tongue, which appears with shiny bright red spots after the top coating sloughs off
Swollen hands and feet and redness of the palms and soles of the feet
Swollen lymph nodes in the neck
Understandably, children with these symptoms are extremely uncomfortable and irritable. Any parent whose child has persistent fever and any of these symptoms should take him or her to the doctor immediately.
Without treatment, about 25% of children develop heart disease involving the coronary arteries. Timely diagnosis and treatment (which usually includes intravenous gamma globulin) is highly effective in preventing coronary complications. Doctors continue to study the long-term outcome of children who do not appear to have coronary involvement. Other kinds of longer-term consequences (e.g., non-coronary) are extremely rare. There is no evidence that links KD with autism or a seizure disorder. A very small number of KD children might have a seizure in the early acute stage of KD when there are very high fevers, but there is no on-going or long term seizure prone condition.
