http://www.fanconi.org/
http://www. fanconi.org / family / Network.htm
http://www.asoc-anemiafanconi.es/
Sunday, August 8, 2010
Sleepytime Tea And Baby
FANCONI Associations around the world: DOCUMENTARY
http://www.fanconi.org/
http://www. fanconi.org / family / Network.htm
http://www.asoc-anemiafanconi.es/
http://www.fanconi.org/
http://www. fanconi.org / family / Network.htm
http://www.asoc-anemiafanconi.es/
Tuesday, August 3, 2010
Watcg Ben 10 Alien Force Episode 43
TOPICS IN THE DOCUMENTARY
DOCUMENTARY Fanconi anemia
IS Fanconi anemia?
Fanconi Anemia is a rare blood disease, whose frequency is around 2.5 cases per 10000 births. Was described by Fanconi in 1927 and could be defined as a childhood disease with involvement of all elements of the bone marrow, which is associated with renal malformations, cardiac, and limb, is accompanied by dermatology, presents as a severe complication of leukemia.
In this disease there is a chromosomal instability resulting in a failure of the bone marrow and, as a result of the 3 types of cells that are in it: red blood cells (also called erythrocytes or RBCs), white blood cells (or leukocytes ) and platelets. This produces the condition called pancytopenia, which means there is a decrease in all cell lines produced in the bone which is inside the bones.
syndrome is considered hereditary and transmitted to offspring with autosomal recessive inheritance, this means that in order to manifest the disease is necessary to have an abnormal gene on both chromosomes of the individual patient, one from the father, and another of the mother.
The clinical manifestations of Fanconi anemia are caused by the progressive disappearance of blood cells involved in these processes, leading to:
• Anemia due to alteration of erythrocytes
• Infections due to the repetition alteration of leukocytes
• bleeding by altering platelet existing
• In addition, these patients have an increased risk of cancer, especially leukemia.
The disease has a variable presentation and is often accompanied by malformations and symptoms, many of which affect the physical appearance of patients, such as:
• Skin changes: increased pigmentation and / or appearance of "coffee stains"
• skeletal malformations, mainly in the arms. May present such absence or changes in the development of the thumb of the hand or forearm radio. • Low height
and stunting
•
testicular disorders • Kidney abnormalities
• Microcephaly (abnormally small head)
• Abnormalities in the eyes and eyelids
• Deafness or other hearing disorders and ear malformations and digestive
•
cardiopulmonary
It differs from other chromosomal instability syndromes that is associated with immunodeficiency.
As the age of onset disease occurs primarily in children between 2 and 15 years of age. Why children with pancytopenia should be investigated for associated congenital malformations.
Diagnosis Diagnosis is made primarily by clinical discussed and laboratory data. It will be convenient to perform the following tests:
• Blood tests: blood count results show pancytopenia, ie a decrease in the frequency of the 3 types of cells: red blood cells (anemia), white blood cells (leukopenia) and platelets (thrombocytopenia) .
• Bone marrow biopsy: To demonstrate, as in the blood, the decrease of the 3 cell lines.
• Cytogenetic study: The analysis of genes and chromosomes of cells show chromosome fragility and other characteristic features.
• For the detection and assessment of associated malformations is made as X-ray imaging or CAT scan, hearing test, renal ultrasound, etc.
• If you want to make a prenatal diagnostic amniocentesis or chorionic villus sample.
• Face treatment with bone marrow transplant will be necessary to perform HLA typing of patients and family members to determine if any are compatible donor. Treatment
curative treatment for Fanconi anemia is bone marrow transplantation bone being the best donor is HLA compatible sibling. When you have to resort to other unrelated donors survival results in general are lower.
addition, if the involvement is important to apply palliative treatment of anemia through the use of platelet transfusions, red blood cells or leukocytes, and administered intravenous antibiotics if they experience fever or infection.
gene therapy for this disease is currently in advanced research.
Regarding prevention of disease, an inherited disorder when there is little they can do but the genetic counseling of affected families. Some complications infections can be prevented by vaccination. It is recommended subject to monitoring by your doctor to detect early malignancies that may arise.
survival of patients with Fanconi anemia can vary from 2 to 25 years. The prognosis depends largely on the cell counts are very low if present a worse prognosis. Physical appearance
The most common characteristic defects in FA include skin hyperpigmentation and brown spots with milk, short stature, abnormal thumbs and radii, and irregularities in the head, eyes, kidneys and ears. A Although these types of anomalies can be
present in many other syndromes, must be tested for presence of AF in patients with these characteristics. It should be noted, however, that the
least 25% of patients diagnosed with AF have few or none of these features
Diseases several spontaneous chromosome breaks may be observed during the studies to assess disease prenatal or postpartum gene, which must be followed by evidence of AF. Consideration should be given for the existence of AF in patients with AML or solid tumors over-sensitive to chemotherapy or radiotherapy, or are unusually young and lack the usual risk factors for their malignancies. Also patients with acquired aplastic anemia unresponsive to the combination of ATG and cyclosporine A or
to respond to treatment with androgens may suffer from AF.
Importance of early diagnosis of AF
Early diagnosis of AF conclaridad helps guide medical treatment and avoids gestióninadecuada of bone marrow failure, MDS or leukemia, and allows consideration of a timely eltrasplante stem cells, androgens, and hematopoietic growth losfactores supportive care (see Chapters later). Also, for reasons orthopedic surgery, kidney or other is optimized if you know the diagnosis of AF. For example, surgery can be scheduled prior to the onset decitopenias significant. It is imperative that genetic counseling because of the 25% risk of recurrence. Parala opportunities should be provided family planning and prenatal diagnosis,
even the pre-implantation diagnosis.
Diagnosis
When AF is suspected the presence of AF is necessary to refer the patient to a hematologist or a genetic specialist, who may be asked to perform a FA test in a laboratory prepared. The specific test may vary depending on the scenario, but the first test should be used as diagnostic testing or screening
. If you get a positive result, we must refer the patient to appropriate specialists, and if the result is negative and the suspicion of
AF is small, it is intended to continue the tests. If the result is negative, but suspicion is high, you must perform one or more of the following
tests. If they are negative and the patient appears to suffer an inherited bone marrow failure syndrome should be considered
existence of other disorders such as dyskeratosis congenita, syndrome Shwachman-Diamond or Diamond-Blackfan anemia
Since FA is a rare condition noexisten prospective randomized trials comparing different treatment approaches and to guide decision-making terapéuticas.Por this reason is necessary to assess the risks and benefits of available treatment options with hematologists expert in AF.
At the time of diagnosis of Fanconi anemia:
• Refer to an expert hematologist AF control and treatment.
• Patients with any degree of bone marrow failure should be referred to a transplant center with experience in AF to start conversations about treatment options available and evaluate possible options for transplant
available. It is advisable to contact an expert immediately to transplant to allow families the option of starting the procedure
an optimal time for the patient. If the patient had no hematologic abnormalities at the time of diagnosis
reasonable to delay referral to a transplant center.
• Families wishing to have more children get interested
conducting prenatal screening or genetic diagnosis prior to implantation.
These families should be referred to specialist who can receive
appropriate medical advice.
The journey of parents
Parents may face FA in very different ways. Some need to know everything to plan a future strategy, while others focus
at present. Some need to talk and mourn, and others not. We must recognize the different ways of tackling the disease by sex and culture
, so that each can be supported in their strengths, understanding and skills during the course of the disease.
If a marital relationship was already going through a time of much tension, they will often be exacerbated by the disease. On the other hand, some couples experience the pressure and the magnitude of the problems facing relación.La strengthen their depression and anxiety are two very uncomfortable emotional characteristics that accompany this disease. Many parents feel anxious or depressed at the outset, unsure what will happen. The ability to control anxiety or depression in order to make decisions, enjoy life and continue to operate these skills should be developed. Keep abreast of the current state of research and the advancement of knowledge about AF and its treatment can help people calm down, focus and feel well informed. Discuss with others parents understand their decision-making processes and for support are factors that help parents to maintain the balance they need. Advice, information and support
of the Foundation for Research on Fanconi anemia, groups FARF electronic and communication with professional
play an effective role and contribute to the continuity of treatment for children with AF and their families. These support groups offer parents
the opportunity to be parents and
compare their children with other children, seeking the company of other parents in similar situations, share ideas and suggestions, share information and join the fight
disease.
The physician's role: what helps and what hurts
How can doctors help
not expected that a patient's physician to "treat" the stress of parents or spouses who experience pain, although it would be appropriate the
referred to a support group (for example, the Research Foundation of the Fanconi anemia), a therapist or other appropriate professional.
However, the physician's ability to influence the emotional status of caregivers is enormous and can play a crucial role, helping the family
go from being plunged into despair, anger and guilt, to understanding the disease, preparing and participating in treatment plan
and lose hope.
medical specifics are helpful
almost any pediatrician or primary care physician and few hematologists have had previous experiences in the treatment of patients with AF. The
physician must be willing to learn, eager to investigate the current literature and seek advice from experts, plus
to devote the necessary time to learn new therapeutic approaches. Also useful to be a caring, friendly, concerned about the welfare
the patient and family stress experienced.
The attending physicians should be able to explain and listen well, communicate in a language understandable to the family, listening to the fears and concerns and answering questions in understandable terms. It's okay to admit that a doctor does not know all the answers, but it must try to find out
.
Keep hope
The physician must be honest, straightforward and frank in discussing the diagnosis of Fanconi anemia. The family should know that is a very serious and possibly fatal.
false hopes are useless. At the same time, doctors should encourage families to be optimistic. Articles on Fanconi anemia, and the alarming statistics presented reflect previous therapeutic approaches do not rule out the possibility of improving the results of bone marrow transplants, and new methods of gene therapy could change life expectancy or future findings can improve overall survival rates. Families should know that research findings on this rare disease has advanced rapidly in recent years and that many laboratories are actively seeking new and promising treatments. It is necessary to inform, as appropriate, new findings that could
greatly improve the prognosis of their child or spouse.
attitudes and behaviors that are helpful
relatives unsure about what behaviors of doctors do not help. A doctor who knows little or nothing about Fanconi anemia and do not have time to learn is not useful. Doctors looking cold, distant and unsympathetic
not earn the trust of the family. You do not have a high opinion of doctors who speak in complicated medical terms,
not have time to answer questions, in a hurry or are impatient, treat the family so condescending or disregard their contributions. Many parents tell stories
doctors informed them that his son would probably die within a specified period, or before reaching a certain age. The news left them shattered and
often not proved to be true, because we know too little about how to evolve from each individual. Obviously, it is unknown
positive impact of future treatments and may not be addressed in current medical articles. Doctors who evidently absent
when communicating bad news diagnostic or never come to visit a dying patient causing additional suffering to a family grieving
.
can be difficult to find a doctor in time to investigate an orphan disease and provide a perfect care to patients in these times of work overload, private health insurance and pressures from other patients who also need
care quality. Having lived with this disease for more than twenty years, the author of these lines has been observed
major differences between a doctor and another in terms of their ability to collaborate with families to support a potentially fatal chronic
. Families should try to find a doctor who can best meet the physical and emotional needs of the patient. Physicians should be more aware and caring about the needs of this unique group of families.
... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... .. OBJECTIVES
DOCUMENTARY:
-Making a rare disease known to most people who ignored their existence, mainly the film is aimed at sufferers and their families and friends.
-Interview all physicians and researchers, as well as the various foundations for patients with Fanconi most placed directly in Europe and the U.S..
-Interviewing children and adult patients with the disease, and patients who have had bone marrow transplants, and family members who accompany them all the time.
-To inform families about the importance of early diagnosis:
can properly treat hematologic disease, provide appropriate genetic counseling to families, to identify pre-symptomatic AF siblings and unaffected siblings or pregnancy that could serve as donors
of hematopoietic stem progenitor cells to a patient in AF with spinal disorders, as well as the surveillance of cancer
specific.
-Provide treatment options for bone marrow failure.
- Working together with families.
is necessary to encourage families to learn about this disorder and play an active role in the treatment plan. Participate in the decision making process allows many people to face the
anxiety, depression and loss of control they are experiencing.
- Promoting normality, while remaining alert to unusual symptoms
Where appropriate and within prudent medical guidelines, physicians should encourage patients to live with high normal.
-Use documentary, as a channel of communication between families with sick children, medical experts and aid agencies worldwide.
simultaneous
-Making in a web page with all the information about the documentary, so everyone interested can follow the development and in turn spread it worldwide. 
DOCUMENTARY Fanconi anemia
IS Fanconi anemia?
Fanconi Anemia is a rare blood disease, whose frequency is around 2.5 cases per 10000 births. Was described by Fanconi in 1927 and could be defined as a childhood disease with involvement of all elements of the bone marrow, which is associated with renal malformations, cardiac, and limb, is accompanied by dermatology, presents as a severe complication of leukemia.
In this disease there is a chromosomal instability resulting in a failure of the bone marrow and, as a result of the 3 types of cells that are in it: red blood cells (also called erythrocytes or RBCs), white blood cells (or leukocytes ) and platelets. This produces the condition called pancytopenia, which means there is a decrease in all cell lines produced in the bone which is inside the bones.
syndrome is considered hereditary and transmitted to offspring with autosomal recessive inheritance, this means that in order to manifest the disease is necessary to have an abnormal gene on both chromosomes of the individual patient, one from the father, and another of the mother.
The clinical manifestations of Fanconi anemia are caused by the progressive disappearance of blood cells involved in these processes, leading to:
• Anemia due to alteration of erythrocytes
• Infections due to the repetition alteration of leukocytes
• bleeding by altering platelet existing
• In addition, these patients have an increased risk of cancer, especially leukemia.
The disease has a variable presentation and is often accompanied by malformations and symptoms, many of which affect the physical appearance of patients, such as:
• Skin changes: increased pigmentation and / or appearance of "coffee stains"
• skeletal malformations, mainly in the arms. May present such absence or changes in the development of the thumb of the hand or forearm radio. • Low height
and stunting
•
testicular disorders • Kidney abnormalities
• Microcephaly (abnormally small head)
• Abnormalities in the eyes and eyelids
• Deafness or other hearing disorders and ear malformations and digestive
•
cardiopulmonary
It differs from other chromosomal instability syndromes that is associated with immunodeficiency.
As the age of onset disease occurs primarily in children between 2 and 15 years of age. Why children with pancytopenia should be investigated for associated congenital malformations.
Diagnosis Diagnosis is made primarily by clinical discussed and laboratory data. It will be convenient to perform the following tests:
• Blood tests: blood count results show pancytopenia, ie a decrease in the frequency of the 3 types of cells: red blood cells (anemia), white blood cells (leukopenia) and platelets (thrombocytopenia) .
• Bone marrow biopsy: To demonstrate, as in the blood, the decrease of the 3 cell lines.
• Cytogenetic study: The analysis of genes and chromosomes of cells show chromosome fragility and other characteristic features.
• For the detection and assessment of associated malformations is made as X-ray imaging or CAT scan, hearing test, renal ultrasound, etc.
• If you want to make a prenatal diagnostic amniocentesis or chorionic villus sample.
• Face treatment with bone marrow transplant will be necessary to perform HLA typing of patients and family members to determine if any are compatible donor. Treatment
curative treatment for Fanconi anemia is bone marrow transplantation bone being the best donor is HLA compatible sibling. When you have to resort to other unrelated donors survival results in general are lower.
addition, if the involvement is important to apply palliative treatment of anemia through the use of platelet transfusions, red blood cells or leukocytes, and administered intravenous antibiotics if they experience fever or infection.
gene therapy for this disease is currently in advanced research.
Regarding prevention of disease, an inherited disorder when there is little they can do but the genetic counseling of affected families. Some complications infections can be prevented by vaccination. It is recommended subject to monitoring by your doctor to detect early malignancies that may arise.
survival of patients with Fanconi anemia can vary from 2 to 25 years. The prognosis depends largely on the cell counts are very low if present a worse prognosis. Physical appearance
The most common characteristic defects in FA include skin hyperpigmentation and brown spots with milk, short stature, abnormal thumbs and radii, and irregularities in the head, eyes, kidneys and ears. A Although these types of anomalies can be
present in many other syndromes, must be tested for presence of AF in patients with these characteristics. It should be noted, however, that the
least 25% of patients diagnosed with AF have few or none of these features
Diseases several spontaneous chromosome breaks may be observed during the studies to assess disease prenatal or postpartum gene, which must be followed by evidence of AF. Consideration should be given for the existence of AF in patients with AML or solid tumors over-sensitive to chemotherapy or radiotherapy, or are unusually young and lack the usual risk factors for their malignancies. Also patients with acquired aplastic anemia unresponsive to the combination of ATG and cyclosporine A or
to respond to treatment with androgens may suffer from AF.
Importance of early diagnosis of AF
Early diagnosis of AF conclaridad helps guide medical treatment and avoids gestióninadecuada of bone marrow failure, MDS or leukemia, and allows consideration of a timely eltrasplante stem cells, androgens, and hematopoietic growth losfactores supportive care (see Chapters later). Also, for reasons orthopedic surgery, kidney or other is optimized if you know the diagnosis of AF. For example, surgery can be scheduled prior to the onset decitopenias significant. It is imperative that genetic counseling because of the 25% risk of recurrence. Parala opportunities should be provided family planning and prenatal diagnosis,
even the pre-implantation diagnosis.
Diagnosis
When AF is suspected the presence of AF is necessary to refer the patient to a hematologist or a genetic specialist, who may be asked to perform a FA test in a laboratory prepared. The specific test may vary depending on the scenario, but the first test should be used as diagnostic testing or screening
. If you get a positive result, we must refer the patient to appropriate specialists, and if the result is negative and the suspicion of
AF is small, it is intended to continue the tests. If the result is negative, but suspicion is high, you must perform one or more of the following
tests. If they are negative and the patient appears to suffer an inherited bone marrow failure syndrome should be considered
existence of other disorders such as dyskeratosis congenita, syndrome Shwachman-Diamond or Diamond-Blackfan anemia
Since FA is a rare condition noexisten prospective randomized trials comparing different treatment approaches and to guide decision-making terapéuticas.Por this reason is necessary to assess the risks and benefits of available treatment options with hematologists expert in AF.
At the time of diagnosis of Fanconi anemia:
• Refer to an expert hematologist AF control and treatment.
• Patients with any degree of bone marrow failure should be referred to a transplant center with experience in AF to start conversations about treatment options available and evaluate possible options for transplant
available. It is advisable to contact an expert immediately to transplant to allow families the option of starting the procedure
an optimal time for the patient. If the patient had no hematologic abnormalities at the time of diagnosis
reasonable to delay referral to a transplant center.
• Families wishing to have more children get interested
conducting prenatal screening or genetic diagnosis prior to implantation.
These families should be referred to specialist who can receive
appropriate medical advice.
The journey of parents
Parents may face FA in very different ways. Some need to know everything to plan a future strategy, while others focus
at present. Some need to talk and mourn, and others not. We must recognize the different ways of tackling the disease by sex and culture
, so that each can be supported in their strengths, understanding and skills during the course of the disease.
If a marital relationship was already going through a time of much tension, they will often be exacerbated by the disease. On the other hand, some couples experience the pressure and the magnitude of the problems facing relación.La strengthen their depression and anxiety are two very uncomfortable emotional characteristics that accompany this disease. Many parents feel anxious or depressed at the outset, unsure what will happen. The ability to control anxiety or depression in order to make decisions, enjoy life and continue to operate these skills should be developed. Keep abreast of the current state of research and the advancement of knowledge about AF and its treatment can help people calm down, focus and feel well informed. Discuss with others parents understand their decision-making processes and for support are factors that help parents to maintain the balance they need. Advice, information and support
of the Foundation for Research on Fanconi anemia, groups FARF electronic and communication with professional
play an effective role and contribute to the continuity of treatment for children with AF and their families. These support groups offer parents
the opportunity to be parents and
compare their children with other children, seeking the company of other parents in similar situations, share ideas and suggestions, share information and join the fight
disease.
The physician's role: what helps and what hurts
How can doctors help
not expected that a patient's physician to "treat" the stress of parents or spouses who experience pain, although it would be appropriate the
referred to a support group (for example, the Research Foundation of the Fanconi anemia), a therapist or other appropriate professional.
However, the physician's ability to influence the emotional status of caregivers is enormous and can play a crucial role, helping the family
go from being plunged into despair, anger and guilt, to understanding the disease, preparing and participating in treatment plan
and lose hope.
medical specifics are helpful
almost any pediatrician or primary care physician and few hematologists have had previous experiences in the treatment of patients with AF. The
physician must be willing to learn, eager to investigate the current literature and seek advice from experts, plus
to devote the necessary time to learn new therapeutic approaches. Also useful to be a caring, friendly, concerned about the welfare
the patient and family stress experienced.
The attending physicians should be able to explain and listen well, communicate in a language understandable to the family, listening to the fears and concerns and answering questions in understandable terms. It's okay to admit that a doctor does not know all the answers, but it must try to find out
.
Keep hope
The physician must be honest, straightforward and frank in discussing the diagnosis of Fanconi anemia. The family should know that is a very serious and possibly fatal.
false hopes are useless. At the same time, doctors should encourage families to be optimistic. Articles on Fanconi anemia, and the alarming statistics presented reflect previous therapeutic approaches do not rule out the possibility of improving the results of bone marrow transplants, and new methods of gene therapy could change life expectancy or future findings can improve overall survival rates. Families should know that research findings on this rare disease has advanced rapidly in recent years and that many laboratories are actively seeking new and promising treatments. It is necessary to inform, as appropriate, new findings that could
greatly improve the prognosis of their child or spouse.
attitudes and behaviors that are helpful
relatives unsure about what behaviors of doctors do not help. A doctor who knows little or nothing about Fanconi anemia and do not have time to learn is not useful. Doctors looking cold, distant and unsympathetic
not earn the trust of the family. You do not have a high opinion of doctors who speak in complicated medical terms,
not have time to answer questions, in a hurry or are impatient, treat the family so condescending or disregard their contributions. Many parents tell stories
doctors informed them that his son would probably die within a specified period, or before reaching a certain age. The news left them shattered and
often not proved to be true, because we know too little about how to evolve from each individual. Obviously, it is unknown
positive impact of future treatments and may not be addressed in current medical articles. Doctors who evidently absent
when communicating bad news diagnostic or never come to visit a dying patient causing additional suffering to a family grieving
.
can be difficult to find a doctor in time to investigate an orphan disease and provide a perfect care to patients in these times of work overload, private health insurance and pressures from other patients who also need
care quality. Having lived with this disease for more than twenty years, the author of these lines has been observed
major differences between a doctor and another in terms of their ability to collaborate with families to support a potentially fatal chronic
. Families should try to find a doctor who can best meet the physical and emotional needs of the patient. Physicians should be more aware and caring about the needs of this unique group of families.
... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... ... .. OBJECTIVES
DOCUMENTARY:
-Making a rare disease known to most people who ignored their existence, mainly the film is aimed at sufferers and their families and friends.
-Interview all physicians and researchers, as well as the various foundations for patients with Fanconi most placed directly in Europe and the U.S..
-Interviewing children and adult patients with the disease, and patients who have had bone marrow transplants, and family members who accompany them all the time.
-To inform families about the importance of early diagnosis:
can properly treat hematologic disease, provide appropriate genetic counseling to families, to identify pre-symptomatic AF siblings and unaffected siblings or pregnancy that could serve as donors
of hematopoietic stem progenitor cells to a patient in AF with spinal disorders, as well as the surveillance of cancer
specific.
-Provide treatment options for bone marrow failure.
- Working together with families.
is necessary to encourage families to learn about this disorder and play an active role in the treatment plan. Participate in the decision making process allows many people to face the
anxiety, depression and loss of control they are experiencing.
- Promoting normality, while remaining alert to unusual symptoms
Where appropriate and within prudent medical guidelines, physicians should encourage patients to live with high normal.
-Use documentary, as a channel of communication between families with sick children, medical experts and aid agencies worldwide.
simultaneous
-Making in a web page with all the information about the documentary, so everyone interested can follow the development and in turn spread it worldwide.
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