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How is a TORCH panel done on a new baby?
The TORCH panel requires a sample of the infant's blood. Samples from infants are usually obtained by the heelstick procedure when only a small quantity of blood is needed.
B and T cell screen?
DefinitionA B and T cell screen is a laboratory test to determine the amount of T and B cells (lymphocytes) in the blood.Alternative NamesDirect immunofluorescence; E-rosetting; T and B lymphocyte assays; B and T lymphocyte assaysHow the test is performedBlood is drawn from a vein, usually from the inside of the elbow or the back of the hand. The site is cleaned with germ-killing medicine (antiseptic). The health care provider wraps an elastic band around the upper arm to apply pressure to the area and make the vein swell with blood.Next, the health care provider gently inserts a needle into the vein. The blood collects into an airtight vial or tube attached to the needle. The elastic band is removed from your arm.Once the blood has been collected, the needle is removed, and the puncture site is covered to stop any bleeding.Blood could also be obtained by capillary sample(fingerstick, or heelstick in infants).After the blood is drawn it goes through a two-step process. First, the lymphocytes are separated from other blood parts. Once the cells are separated, identifiers are added to distinguish between T and B cells. The E-rosetting test identifies T cells and direct immunofluorescence is used to identify B cells.How to prepare for the testTell your health care provider if you have had any of the following, which might affect your T and B cell count:ChemotherapySurgerySteroid therapyStressX-raysRecent infectionHow the test will feelWhen the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing.Why the test is performedYour doctor may order this test if you have signs of certain diseases that weaken the immune system. It may also be used to distinguish between cancerous and noncancerous disease, especially cancers that involve the blood and bone marrow.The test may also be used to determine how well treatment for certain conditions is working.Normal ValuesNormal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.What abnormal results meanAbnormal T and B cell counts suggest possible diseases. Further testing is needed to confirm a diagnosis.An increased T cell count may be due to:Infectious mononucleosisMultiple myelomaAcute lymphoblastic leukemiaChronic lymphocytic leukemiaAn increased B cell count may be due to:Chronic lymphocytic leukemiaMultiple myelomaWaldenstrom's macroglobulinemiaDiGeorge syndromeA decreased T cell count may be due to:Congenital T-cell deficiency disease Nezelof syndromeDiGeorge syndromeWiskott-Aldrich syndromeAcquired T-cell deficiency states HIV infectionHTLV-1 infectionB cell proliferative disorders Acquired immunodeficiency syndromeChronic lymphocytic leukemiaWaldenstrom's macroglobulinemiaA decreased B cell count may be due to:Acute lymphoblastic leukemiaCongenital immunoglobulin deficiency disordersAcquired immunoglobulin deficiency disordersWhat the risks areVeins and arteries vary in size from one patient to another and from one side of the body to the other. Obtaining a blood sample from some people may be more difficult than from others.Other risks associated with having blood drawn are slight but may include:Excessive bleedingFainting or feeling light-headedHematoma (blood accumulating under the skin)Infection (a slight risk any time the skin is broken)ReferencesBagby GC. Leukopenia and leukocytosis. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 173.
Congenital adrenal hyperplasia?
DefinitionCongenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.Alternative NamesAdrenogenital syndrome; 21-hydroxylase deficiencyCauses, incidence, and risk factorsCongenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.Without these hormones, the body produces more androgen, a type of male sex hormone. This causes male characteristics to appear early (or inappropriately).About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.SymptomsGirls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:Abnormal menstrual periodsDeep voiceEarly appearance of pubic and armpit hairExcessive hair growth and facial hairFailure to menstruateGenitals that look both male and female (ambiguous genitalia), often appearing more male than femaleBoys won't have any obvious problems at birth. However, they may appear to enter puberty as early as 2 - 3 years of age. Changes may include:Deep voiceEarly appearance of pubic and armpit hairEarly development of male characteristicsEnlarged penisSmall testesWell-developed musclesBoth boys and girls will be tall as children but much shorter than normal as adults.Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to a loss of salt. Newborns with these forms develop severe symptoms shortly after birth, including:Cardiac arrhythmiasDehydrationElectrolytechangesVomitingSigns and testsAbnormal salt levels in blood (serum electrolytes) and urineHigh levels of 17-OH progesteroneHigh levels of serum DHEA sulfateHigh levels of urinary 17-ketosteroidsLow levels of aldosterone and cortisolNormal or low urinary 17-hydroxycorticosteroidsX-ray for bone age (shows older bones than normal for the person's age)Genetic tests can help diagnose, confirm, and manage the disease.This disease may also affect the results of the following tests:Estriol - serumEstriol - urinePregnanediolTreatmentThe goal of treatment is to return hormone levels to normal. This is done by taking a form of cortisol (dexamethasone, fludrocortisone, or hydrocortisone) every day. People may need additional doses of medicine during times of stress, such as severe illness or surgery.The health care provider will determine the gender of a baby with ambiguous genitalia by checking the chromosomes (karyotyping). Girls with male-looking genitals will usually have surgery between ages 1 month - 3 months to correct the abnormal appearance.Parents of children with congenital adrenal hyperplasia should be aware of the side effects of steroid therapy. Report signs of infection and stress to your health care provider because the child may need more medication. Steroid medications cannot be stopped suddenly, because it may lead to adrenal insufficiency.Support GroupsNational Adrenal Diseases Foundation: www.medhelp.org/nadf/The MAGIC Foundation: www.magicfoundation.orgThe CARES Foundation: www.caresfoundation.orgExpectations (prognosis)People with this condition usually have good health. However, they may be shorter than normal, even with treatment.Males have normal fertility. Females may have a smaller opening of the vagina and lower fertility.People with this disorder must take medication their entire lives.Untreated, adrenal crisis can lead to death within 1 - 6 weeks after birth.ComplicationsAbnormal female external genitals (internal organs are normal)Adrenal crisis, including hyponatremia and shock (especially in newborns)Early development of male sexual characteristicsHigh blood pressureLow blood sugarShort height as an adult, despite early, rapid childhood growthSide effects of steroid medications used as treatmentTumors of the testes in adult menCalling your health care providerCall for an appointment with your health care provider if your child develops symptoms of this disorder.If you had a child with this disorder or you have a family history of this disease and you plan to have other children, talk to your health care provider before conceiving. Genetic counseling is important if you have a family history of congenital adrenal hyperplasia.PreventionParents with a family history of congenital adrenal hyperplasia (of any type) or a child who has the condition should consider genetic counseling.Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. Diagnosis is made in the first trimester by chorionic villus sampling. Diagnosis in the second trimester is made by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.A newborn screening test is available for the most common form of congenital adrenal hyperplasia. It can be done on heelstick blood (as part of the routine screenings done on newborns). This test is currently performed in many states. Ask your doctor if it is done in your state.ReferencesWhite PC. Congenital adrenal hyperplasia and related disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 577.
Phenylketonuria?
DefinitionPhenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.Alternative NamesPKU; Neonatal phenylketonuriaCauses, incidence, and risk factorsPhenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.SymptomsPhenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.Other symptoms may include:Delayed mental and social skillsHead size significantly below normalHyperactivityJerking movements of the arms or legsMental retardationSeizuresSkin rashesTremorsUnusual positioning of handsIf the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body.Signs and testsPKU can be easily detected with a simple blood test. Most states require a PKU screening test for all newborns. The test is generally done with a heelstick shortly after birth.If the initial screening test is positive, further blood and urine tests are required to confirm the diagnosis.TreatmentPKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health. "Diet for life" has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy.Phenylalanine occurs in significant amounts in milk, eggs, and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided.A special infant formula called Lofenalac is made for infants with PKU. It can be used throughout life as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids.Taking supplements such as fish oil to replace the long chain fatty acids missing from a standard phenylalanine-free diet may help improve neurologic development, including fine motor coordination. Other specific supplements, such as iron or carnitine, may be needed.Expectations (prognosis)The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired.If proteins containing phenylalanine are not avoided, PKU can lead to mental retardation by the end of the first year of life.ComplicationsSevere mental retardation occurs if the disorder is untreated. ADHD (attention-deficit hyperactivity disorder) appears to be the most common problem seen in those who do not stick to a very low-phenylalanine diet.Calling your health care providerCall your health care provider if your infant has not been tested for PKU. This is particularly important if anyone in your family has the disorder.PreventionAn enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done on the pregnant women to screen the unborn baby for PKU.It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy, since build-up of this substance will damage the developing baby even if the child has not inherited the defective gene.ReferencesAmerican Dietetic Association. Providing nutrition services for infants, children, and adults with developmental disabilities and special health care needs. J Am Diet Assoc. Jan 2004; 104(1): 97-107.Beblo S. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr. May 2007; 150(5): 479-84.Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun 2006; 33(2): 411-79.Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. Oct 2005; 33(4): 267-71.Welch T. Dietary management of mothers with PKU during pregnancy. J Pediatr. Feb 2004; 144(2); 1A.Welch TR. Pharmacologic approach to PKU? J Pediatr. Jun 2007; 150(6); A3.Screening for phenylketonuria (PKU): US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6:166.
