I have this in full-text PDF.
Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia.
Black LV, Soltau T, Kelly DR, Berkow RL.
Department of Pediatrics, Division of Pediatric Hematology‐Oncology, University of Alabama at Birmingham, Birmingham, Alabama.
Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS). Pediatr Blood Cancer (c) 2008 Wiley-Liss, Inc.
PMID: 18322927 [PubMed - as supplied by publisher]
Showing posts with label bone marrow failure. Show all posts
Showing posts with label bone marrow failure. Show all posts
Monday, March 10, 2008
Sunday, March 9, 2008
A study of bone marrow failure syndrome in children.
A link to the full-text article can be found on the Shwachman-Diamond America SDS Articles page
A study of bone marrow failure syndrome in children.
Background: Bone marrow failure syndrome (BMFS), or aplastic anemia, includes peripheral blood single cytopenias, as well as pancytopenia due to inability of the marrow to effectively produce blood cells. Aim: To study the clinico-hematological profile and etiological factors of bone marrow failure syndrome in children. Setting and Design: This prospective study was carried out in the Department of Pediatrics of a university teaching hospital over 36 months. Materials and Methods: Children with pancytopenia (Hb 9 /L, platelet count < 100 x 10 9 /L) and bone marrow cellularity < 25% were included in the study. History of exposure to drugs, socioeconomic status, ethnicity and occupation of father were noted. Bone marrow aspiration; trephine biopsy; Ham test; viral studies for hepatitis A, B and C; and cytogenetic investigations were carried out. Statistical Analysis: Relative risk was estimated by odds ratio (OR) with 95% confidence interval (CI) in matched cases and controls. Results: Of the 53 children studied, 6 (11.3%) were diagnosed as Fanconi anemia. Two cases had features of myelodysplastic syndrome. Forty-five children were labeled as acquired aplastic anemia, of whom one had evidence of hepatitis B infection and two patients (5.8%) had paroxysmal nocturnal hemoglobinuria. Aplastic anemia was more common in children from family with lower socioeconomic status; in Muslims; and where the father's occupation was weaving, dyeing and painting. However, the number was small to make statistically significant conclusions. No correlation could be established with exposure to drugs. Conclusion: Fanconi anemia was responsible for approximately one-tenth of the cases of bone marrow failure syndrome. Majority of the patients had acquired aplastic anemia. Hepatitis B infection was an uncommon cause of acquired aplastic anemia.
A study of bone marrow failure syndrome in children.
Background: Bone marrow failure syndrome (BMFS), or aplastic anemia, includes peripheral blood single cytopenias, as well as pancytopenia due to inability of the marrow to effectively produce blood cells. Aim: To study the clinico-hematological profile and etiological factors of bone marrow failure syndrome in children. Setting and Design: This prospective study was carried out in the Department of Pediatrics of a university teaching hospital over 36 months. Materials and Methods: Children with pancytopenia (Hb 9 /L, platelet count < 100 x 10 9 /L) and bone marrow cellularity < 25% were included in the study. History of exposure to drugs, socioeconomic status, ethnicity and occupation of father were noted. Bone marrow aspiration; trephine biopsy; Ham test; viral studies for hepatitis A, B and C; and cytogenetic investigations were carried out. Statistical Analysis: Relative risk was estimated by odds ratio (OR) with 95% confidence interval (CI) in matched cases and controls. Results: Of the 53 children studied, 6 (11.3%) were diagnosed as Fanconi anemia. Two cases had features of myelodysplastic syndrome. Forty-five children were labeled as acquired aplastic anemia, of whom one had evidence of hepatitis B infection and two patients (5.8%) had paroxysmal nocturnal hemoglobinuria. Aplastic anemia was more common in children from family with lower socioeconomic status; in Muslims; and where the father's occupation was weaving, dyeing and painting. However, the number was small to make statistically significant conclusions. No correlation could be established with exposure to drugs. Conclusion: Fanconi anemia was responsible for approximately one-tenth of the cases of bone marrow failure syndrome. Majority of the patients had acquired aplastic anemia. Hepatitis B infection was an uncommon cause of acquired aplastic anemia.
Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome.
Another article that I have in full-text PDF.
Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome.
Hematology Department, Eurocord Hôpital, Saint Louis, Paris, France.
Aplastic anemia is a rare disease in children that is most commonly idiopathic and less often a hereditary disorder. Hereditary bone marrow failure (BMF) syndromes, however, should be considered both in children and in adults before any attempt at treatment. Precise diagnosis is important because it will modify prognostic treatment options and the results of bone marrow transplantation. In this review, we will report recent results of treatment of Fanconi anemia and other hereditary BMF syndromes.
Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome.
Hematology Department, Eurocord Hôpital, Saint Louis, Paris, France.
Aplastic anemia is a rare disease in children that is most commonly idiopathic and less often a hereditary disorder. Hereditary bone marrow failure (BMF) syndromes, however, should be considered both in children and in adults before any attempt at treatment. Precise diagnosis is important because it will modify prognostic treatment options and the results of bone marrow transplantation. In this review, we will report recent results of treatment of Fanconi anemia and other hereditary BMF syndromes.
Friday, February 22, 2008
Transplant Centers with Experience in SDS
Ø Cincinnati Children’s Hospital
Contact: Richard Harris MD, richard.harris@cchmc.org , (513) 636-3570
Ø Schneider Children’s Hospital, North Shore of Long Island, NY Contact: Jeff Lipton, MD, jlipton@lij.edu, (718) 470-3460
Ø University of Iowa
Contact: Fred Goldman, MD,
frederick-goldman@uiowa.edu, (319) 356-7360
Contact: Richard Harris MD, richard.harris@cchmc.org , (513) 636-3570
Ø Schneider Children’s Hospital, North Shore of Long Island, NY Contact: Jeff Lipton, MD, jlipton@lij.edu, (718) 470-3460
Ø University of Iowa
Contact: Fred Goldman, MD,
frederick-goldman@uiowa.edu, (319) 356-7360
Wednesday, February 20, 2008
Centers with a Bone Marrow Failure Clinic or GI clinic with experience in SDS
Ø Cincinnati Children’s Hospital
Contact: Richard Harris, MD, richard.harris@cchmc.org , (513) 636- 3570
Ø Hospital for Sick Children, Toronto
Contact Peter Durie, MD, peter.durie@sickkids.ca, (416) 813-6185
Ø Children’s Hospital-Seattle, University of Washington, Seattle, WA Contact: Akiko Shimamura, MD, shima2@u.washington.edu, (206) 685-5282
Ø Schneider Children’s Hospital, North Shore of Long Island, NY Contact: Jeff Lipton, MD, jlipton@lij.edu, (718) 470-3460
Ø National Institutes of Health (NIH), Division of Cancer Epidemiology and Genetics (Bone Marrow Failure Program)
Contact: Blanche Alter, MD, alterb@mail.nih.gov, (301) 402-9731
Contact: Richard Harris, MD, richard.harris@cchmc.org , (513) 636- 3570
Ø Hospital for Sick Children, Toronto
Contact Peter Durie, MD, peter.durie@sickkids.ca, (416) 813-6185
Ø Children’s Hospital-Seattle, University of Washington, Seattle, WA Contact: Akiko Shimamura, MD, shima2@u.washington.edu, (206) 685-5282
Ø Schneider Children’s Hospital, North Shore of Long Island, NY Contact: Jeff Lipton, MD, jlipton@lij.edu, (718) 470-3460
Ø National Institutes of Health (NIH), Division of Cancer Epidemiology and Genetics (Bone Marrow Failure Program)
Contact: Blanche Alter, MD, alterb@mail.nih.gov, (301) 402-9731
Friday, February 15, 2008
Families Coping with Bone Marrow Failure Diseases
The Aplastic Anemia & MDS International Foundation, Inc has several great resources for families that have children with bone marrow diseases, such as Shwachman-Diamond Syndrome. Below is a summary of one booklet we found helpful for our own families. To order a free copy of this book, please visit the AA& MDS Foundation website.
Families Coping with Bone Marrow Failure Diseases: Aplastic Anemia, Myelodysplastic Syndromes and PNH -- This booklet goes into Reactions to illness, how to deal with reactions from others, changes to expect within the family, learning to cope…… also has sections on coping with hospital life and a section on helping children cope.
Families Coping with Bone Marrow Failure Diseases: Aplastic Anemia, Myelodysplastic Syndromes and PNH -- This booklet goes into Reactions to illness, how to deal with reactions from others, changes to expect within the family, learning to cope…… also has sections on coping with hospital life and a section on helping children cope.
Thursday, February 14, 2008
Talking to a Child with Bone Marrow Disease
The Aplastic Anemia & MDS International Foundation, Inc has several great resources for families that have children with bone marrow diseases, such as Shwachman-Diamond Syndrome. Below is a summary of one booklet SDA found helpful for our own families. To order a free copy of this book, please visit the AA& MDS Foundation website.
Talking to a Child with Bone Marrow Disease – This is an excellent book created to be read aloud to a child of any age. It was written to encourage children with bone marrow diseases to ask questions and express their feelings. The illustrations are wonderful and the writing is excellent. It not only addresses having a bone marrow disease, but brings up topics that can help children learn positive coping skills in dealing with their disease. Topics include: What can I do when I am feeling bad?, What if I don’t want to talk? , Why do I get sick?, Why do I have to go to the hospital and Why do I need Medicine. It also touches on such topics as: Why is my family upset? And What do I tell my friends? There is a thoughtful section for children to fill out questions (fill in the blank) such as, I’m sad about____________, I need to speak up when __________________ and I love _______________ . The back part of the book includes a blank journal where the child can write about his or her experiences with bone marrow disease.
Talking to a Child with Bone Marrow Disease – This is an excellent book created to be read aloud to a child of any age. It was written to encourage children with bone marrow diseases to ask questions and express their feelings. The illustrations are wonderful and the writing is excellent. It not only addresses having a bone marrow disease, but brings up topics that can help children learn positive coping skills in dealing with their disease. Topics include: What can I do when I am feeling bad?, What if I don’t want to talk? , Why do I get sick?, Why do I have to go to the hospital and Why do I need Medicine. It also touches on such topics as: Why is my family upset? And What do I tell my friends? There is a thoughtful section for children to fill out questions (fill in the blank) such as, I’m sad about____________, I need to speak up when __________________ and I love _______________ . The back part of the book includes a blank journal where the child can write about his or her experiences with bone marrow disease.
Wednesday, February 13, 2008
Parvoviruses and Bone Marrow Failure
This topic comes up a lot on our email support list. Parvo B19, commonly known as Fifth's disease, can be dangerous in SDS kids. The abstract is below, the full text is located here: http://stemcells.alphamedpress.org/cgi/content/full/14/2/151
Parvoviruses and Bone Marrow Failure
Kevin E. Brown, Neal S. Young
Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland, USA
Abstract
Parvovirus B19, the only known human pathogenic parvovirus, is highly tropic to human bone marrow and replicates only in erythroid progenitor cells. The basis of this erythroid tropism is the tissue distribution of the B19 cellular receptor, globoside (blood group P antigen). In individuals with underlying hemolytic disorders, infection with parvovirus B19 is the primary cause of transient aplastic crisis. In immunocompromised patients, persistent B19 infection may develop that manifests as pure red cell aplasia and chronic anemia. B19 infection in utero can result in fetal death, hydrops fetalis or congenital anemia. Diagnosis is based on examination of the bone marrow and B19 virological studies. Treatment of persistent infection with immunoglobulin leads to a rapid, marked resolution of the anemia.
Parvoviruses and Bone Marrow Failure
Kevin E. Brown, Neal S. Young
Hematology Branch, National Heart, Lung and Blood Institute, Bethesda, Maryland, USA
Abstract
Parvovirus B19, the only known human pathogenic parvovirus, is highly tropic to human bone marrow and replicates only in erythroid progenitor cells. The basis of this erythroid tropism is the tissue distribution of the B19 cellular receptor, globoside (blood group P antigen). In individuals with underlying hemolytic disorders, infection with parvovirus B19 is the primary cause of transient aplastic crisis. In immunocompromised patients, persistent B19 infection may develop that manifests as pure red cell aplasia and chronic anemia. B19 infection in utero can result in fetal death, hydrops fetalis or congenital anemia. Diagnosis is based on examination of the bone marrow and B19 virological studies. Treatment of persistent infection with immunoglobulin leads to a rapid, marked resolution of the anemia.
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