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Di Syndrome

Definition

Di syndrome (also called 22q11 deletion syndrome, congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormality in chromosome 22 and affects the baby's immune system. The disorder is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for Angelo Di, the pediatrician who first described it in 1965. Some researchers prefer to call it Di anomaly, or DGA, rather than Di syndrome, on the grounds that the defects associated with the disorder represent the failure of a part of the human embryo to develop normally rather than a collection of symptoms caused by a single disease.

Description

The prevalence of Di syndrome is debated; the estimates range from 1:4000 to 1:6395. Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. Di syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics-cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia-caused by a deletion of several genes in chromosome 22. The specific facial features associated with Di syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. The syndrome appears to be equally common in all racial and ethnic groups.

Causes and symptoms

Di syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in Di syndrome patients. Although efforts have been made in the early 2000s to identify individual candidate genes for DGA, it appears that a combination of several genes in the deleted area is responsible for the disorder. Detailed genetic mapping of chromosome 22 has, however, identified a so-called Di critical region (DGCR), which has been completely sequenced.

According to a 1999 study, 6% of children with Di syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with Di syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy). Other chromosomal abnormalities that have been found in patients diagnosed with DGA include deletions on chromosomes 10p13, 17p13, and 18q21.

The loss of the genes in the deleted material means that the baby's third and fourth pharyngeal pouches fail to develop normally during the twelfth week of pregnancy. This developmental failure results in a completely or partially absent thymus gland and parathyroid glands. In addition, 74% of fetuses with Di syndrome have severe heart defects. The child is born with a defective immune system and an abnormally low level of calcium in the blood. Some children with DGA are also born with malformations of the genitals or urinary tract.

These defects usually become apparent within 48 hours of birth. The infant's heart defects may lead to heart failure, or there may be seizures and other evidence of a low level of calcium in the blood (hypocalcemia).

Di syndrome is also associated with an increased risk of autoimmune disorders. Cases have been reported of DGA in association with Graves' disease, immune thrombocytopenic purpura, juvenile rheumatoid arthritis, and severe eczema.

Diagnosis

Diagnosis of Di syndrome can be made by ultrasound examination around the eighteenth week of pregnancy, when abnormalities in the development of the heart or the palate can be detected. Another technique that is used to diagnose the syndrome before birth is called fluorescence in situ hybridization, or FISH. This technique uses DNA probes from the Di region on chromosome 22. FISH can be performed on cell samples obtained by amniocentesis as early as the fourteenth week of pregnancy. It confirms about 95% of cases of Di syndrome.

If the mother has not had prenatal testing, the diagnosis of Di syndrome is sometimes suggested by the child's facial features at birth. In other cases, the doctor makes the diagnosis during heart surgery when he or she notices the absence or abnormal location of the thymus gland. The diagnosis can be confirmed by blood tests for calcium, phosphorus, and parathyroid hormone levels, and by the sheep cell test for immune function.

Treatment

Hypocalcemia

Hypocalcemia in Di patients is unusually difficult to treat. Infants are usually given calcium and vitamin D by mouth. Severe cases have been treated by transplantation of fetal thymus tissue or bone marrow.

Heart defects

Infants with life-threatening heart defects are treated surgically.

Defective immune function

Children with Di syndrome should be kept on low-phosphorus diets and kept away from crowds or other sources of infection. They should not be immunized with vaccines made from live viruses or given corticosteroids.

Prognosis

The prognosis is variable; many infants with Di syndrome die from overwhelming infection, seizures, or heart failure within the first year. One study of a series of 558 patients reported 8% mortality within six months of birth, with heart defects accounting for all but one of the deaths. Infections resulting from severe immune deficiency are the second most common cause of death in patients with DGA. Advances in heart surgery indicate that the prognosis is most closely linked to the severity of the heart defects and the partial presence of the thymus gland. In most children who survive, the number of T cells, a type of white blood cell, in the blood rises spontaneously as they mature. Survivors are likely to be mentally retarded, however, and to have other developmental difficulties, including seizures or other psychiatric and neurological problems in later life.

Prevention

Genetic counseling is recommended for parents of children with Di syndrome because the disorder can be detected prior to birth. Although most children with Di syndrome did not inherit the chromosome deletion from their parents, they have a 50% chance of passing the deletion on to their own children.

Because of the association between Di syndrome and fetal alcohol syndrome, pregnant women should avoid drinking alcoholic beverages.

NB: Treat with Calcium, Vitamin D, Thymus extracts, low phosphorous diet, avoid the majority of phosphorous dietary sources like:

Cereal Grains: Wheat Germ Barley

Oats

Fruit: Figs Banana

Dates Lychees

Strawberries Grapes

Eggs:

Fungi: Mushrooms

Herbs: Alfalfa Garlic

Rosehips Ginseng

Parsley Licorice

Black Cohosh Ginger

Goldenseal Equisetum

Peppermint Hawthorn

Tea

Meat: Chicken Turkey

Liver

Nuts: Coconut Pistachio Nuts

Walnuts Hazelnut

Brazil Nuts Macadamia Nut

Pecan Nuts

Almonds Cashew Nuts

Chestnuts

Processed Foods: Most Soft Drinks contain large amounts of Phosphorus - up to 500 mg per can.

Seafood: Sardines Most Fish

Seeds: Sunflower Seeds Sesame Seeds

Pumpkin Seeds

Vegetables: Cauliflower Cucumber

Lettuce Carrots

Watercress Potato

Parsnip Fennel

Yeasts: Brewer's Yeast.

Use homeopathic immunization and treat low Immunity by using Dr Alistair's protocol.

Regards,

Renier

Looking for EPFX/Scio proticals for Depression

Looking for EPFX/Scio proticals for DepressionCD

* and Christel sen *

Providing EPFX/SCIO Biofeedback therapies to the World Inquires, sales, support and therapies

For details: 250-767-2083

1-866-427-4660

Be smarter than spam. See how smart SpamGuard is at giving junk email the boot with the All-new

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Thank you very much for this! You have helped Christel and I greatly have a great day Dr Renier du Toit <natmed@...> wrote: Di Syndrome Definition Di syndrome (also called 22q11 deletion syndrome, congenital thymic hypoplasia,

or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormality in chromosome 22 and affects the baby's immune system. The disorder is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for Angelo Di, the pediatrician who first described it in 1965. Some researchers prefer to call it Di anomaly, or DGA, rather than Di syndrome, on the grounds that the defects associated with the disorder represent the failure of a part of the human embryo to develop normally rather than a collection of symptoms caused by a single disease. Description The prevalence of Di syndrome is debated; the estimates range from 1:4000 to 1:6395. Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often

than was previously thought. Di syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics-cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia-caused by a deletion of several genes in chromosome 22. The specific facial features associated with Di syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. The syndrome appears to be equally common in all racial and ethnic groups. Causes and symptoms Di syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly

during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in Di syndrome patients. Although efforts have been made in the early 2000s to identify individual candidate genes for DGA, it appears that a combination of several genes in the deleted area is responsible for the disorder. Detailed genetic mapping of chromosome 22 has, however, identified a so-called Di critical region (DGCR), which has been completely sequenced. According to a 1999 study, 6% of children with Di syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with Di syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol

during pregnancy). Other chromosomal abnormalities that have been found in patients diagnosed with DGA include deletions on chromosomes 10p13, 17p13, and 18q21. The loss of the genes in the deleted material means that the baby's third and fourth pharyngeal pouches fail to develop normally during the twelfth week of pregnancy. This developmental failure results in a completely or partially absent thymus gland and parathyroid glands. In addition, 74% of fetuses with Di syndrome have severe heart defects. The child is born with a defective immune system and an abnormally low level of calcium in the blood. Some children with DGA are also born with malformations of the genitals or urinary tract. These defects usually become apparent within 48 hours of birth. The infant's heart defects may lead to heart failure, or there may be seizures and other

evidence of a low level of calcium in the blood (hypocalcemia). Di syndrome is also associated with an increased risk of autoimmune disorders. Cases have been reported of DGA in association with Graves' disease, immune thrombocytopenic purpura, juvenile rheumatoid arthritis, and severe eczema. Diagnosis Diagnosis of Di syndrome can be made by ultrasound examination around the eighteenth week of pregnancy, when abnormalities in the development of the heart or the palate can be detected. Another technique that is used to diagnose the syndrome before birth is called fluorescence in situ hybridization, or FISH. This technique uses DNA probes from the Di region on chromosome 22. FISH can be performed on cell samples obtained by amniocentesis as early as the fourteenth week

of pregnancy. It confirms about 95% of cases of Di syndrome. If the mother has not had prenatal testing, the diagnosis of Di syndrome is sometimes suggested by the child's facial features at birth. In other cases, the doctor makes the diagnosis during heart surgery when he or she notices the absence or abnormal location of the thymus gland. The diagnosis can be confirmed by blood tests for calcium, phosphorus, and parathyroid hormone levels, and by the sheep cell test for immune function. Treatment Hypocalcemia Hypocalcemia in Di patients is unusually difficult to treat. Infants are usually given calcium and vitamin D by mouth. Severe cases have been treated by transplantation of fetal thymus tissue or bone

marrow. Heart defects Infants with life-threatening heart defects are treated surgically. Defective immune function Children with Di syndrome should be kept on low-phosphorus diets and kept away from crowds or other sources of infection. They should not be immunized with vaccines made from live viruses or given corticosteroids. Prognosis The prognosis is variable; many infants with Di syndrome die from overwhelming infection, seizures, or heart failure within the first year. One study of a series of 558 patients reported 8% mortality within six months of birth, with heart defects accounting for

all but one of the deaths. Infections resulting from severe immune deficiency are the second most common cause of death in patients with DGA. Advances in heart surgery indicate that the prognosis is most closely linked to the severity of the heart defects and the partial presence of the thymus gland. In most children who survive, the number of T cells, a type of white blood cell, in the blood rises spontaneously as they mature. Survivors are likely to be mentally retarded, however, and to have other developmental difficulties, including seizures or other psychiatric and neurological problems in later life. Prevention Genetic counseling is recommended for parents of children with Di syndrome because the disorder can be detected prior to birth. Although most children with Di syndrome did not inherit the chromosome deletion from their

parents, they have a 50% chance of passing the deletion on to their own children. Because of the association between Di syndrome and fetal alcohol syndrome, pregnant women should avoid drinking alcoholic beverages. NB: Treat with Calcium, Vitamin D, Thymus extracts, low phosphorous diet, avoid the majority of phosphorous dietary sources like: Cereal Grains: Wheat Germ Barley Oats Fruit: Figs Banana Dates Lychees Strawberries Grapes Eggs: Fungi: Mushrooms Herbs: Alfalfa

Garlic Rosehips Ginseng Parsley Licorice Black Cohosh Ginger Goldenseal Equisetum Peppermint Hawthorn Tea Meat: Chicken Turkey Liver Nuts:

Coconut Pistachio Nuts Walnuts Hazelnut Brazil Nuts Macadamia

Nut Pecan Nuts Almonds Cashew Nuts Chestnuts Processed Foods: Most Soft Drinks contain large amounts of Phosphorus - up to 500 mg per can. Seafood: Sardines Most Fish Seeds: Sunflower Seeds Sesame Seeds Pumpkin

Seeds Vegetables: Cauliflower Cucumber Lettuce

Carrots Watercress Potato Parsnip Fennel Yeasts: Brewer's Yeast. Use homeopathic immunization and treat low Immunity by using Dr Alistair's protocol. Regards, Renier Looking for EPFX/Scio proticals for Depression Looking for EPFX/Scio proticals for DepressionCD * and Christel sen * Providing EPFX/SCIO Biofeedback therapies to the World Inquires, sales, support and therapies For details: 250-767-2083 1-866-427-4660 Be smarter than spam. See how smart SpamGuard is at giving junk email the boot with the All-new * and Christel sen * Providing EPFX/SCIO Biofeedback therapies to the World Inquires, sales, support and therapies For details: 250-767-2083 1-866-427-4660

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Both are true.infections are common in children due to immune system T-cell mediated response which are caused because of absent or hypoplastic thymus. From: Dr Avery <avery_dr@...> " " < > Sent: Wednesday, 7 December 2011 8:50 AM Subject: Di syndrome

Our appreciation is extended to Ines Velez, DDS, MS, for contributing this

case. History: A 12-year-old girl with

swollen gums. Patient has Di syndrome and has had heart valve replacement surgery. Currently taking Coumadin, aspirin, and digoxin. Extraoral exam: Within normal limits (WNL). Intraoral exam: Patient has generalized gingivitis. Di syndrome is caused by the deletion of a portion of chromosome 22. Patients with this syndrome have hypoplastic or absent thymus. For this reason they show

recurrent infections, such as generalized gingivitis.

Please select the correct response below regarding the statements above.ABoth statements are true.

BThe first statement is true, and the second is false.

CBoth statements are false.

DThe first statement is false, and the second is true. Kind regardsLee

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A..... Both are true....JerlyOn 7 Dec 2011, at 08:50, Dr Avery <avery_dr@...> wrote:

Our appreciation is extended to Ines Velez, DDS, MS, for contributing this case. History: A 12-year-old girl with

swollen gums. Patient has Di syndrome and has had heart valve replacement surgery. Currently taking Coumadin, aspirin, and digoxin. Extraoral exam: Within normal limits (WNL). Intraoral exam: Patient has generalized gingivitis. Di syndrome is caused by the deletion of a portion of chromosome 22. Patients with this syndrome have hypoplastic or absent thymus. For this reason they show recurrent infections, such as generalized gingivitis.

Please select the correct response below regarding the statements above.ABoth statements are true.

BThe first statement is true, and the second is false.

CBoth statements are false.

DThe first statement is false, and the second is true. Kind regardsLee

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Both statements are true.

Right! (Nice job!) Kind regardsLee From: Dr Avery <avery_dr@...> " " < >

Sent: Wednesday, 7 December 2011, 8:50 Subject: Di syndrome

Our appreciation is extended to Ines Velez, DDS, MS, for contributing this case. History: A 12-year-old girl with

swollen gums. Patient has Di syndrome and has had heart valve replacement surgery. Currently taking Coumadin, aspirin, and digoxin. Extraoral exam: Within normal limits (WNL). Intraoral exam: Patient has generalized gingivitis. Di syndrome is caused by the deletion of a portion of chromosome 22. Patients with this syndrome have hypoplastic or absent thymus. For this reason they show recurrent infections, such as generalized gingivitis.

Please select the correct response below regarding the statements above.ABoth statements are true.

BThe first statement is true, and the second is false.

CBoth statements are false.

DThe first statement is false, and the second is true. Kind regardsLee

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