Bone Scans

Here are a few articles that will be helpful in understanding bone scans:

http://www.lifesteps.com/gm/Atoz/ency/bone_nuclear_medicine_scan.jsp


http://www.webmd.com/a-to-z-guides/bone-scan

Bone scans detect inflammation, cancer and new bone growth......



For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Iron Testing

DrGreene Content

The "Iron Test" FailsMany children in the United States get a simple screening blood test to check for iron deficiency – but the test doesn't work! The test does identify anemia (not enough red blood cells) by measuring either the hemoglobin level (hgb) or the hematocrit (hct). But parents are often told that if the test is low, the child needs more iron – or that if the test is normal, the child's iron level is fine. Because getting enough iron is so important to normal development, the screening test is required by many Medicaid insurance programs. All children must have the test to qualify to get food in the Supplemental Nutrition Program for Women, Infants, and Children. But the test had not been checked for accuracy in the last twenty years. According to a study in the February 2005 Pediatrics, the test fails to identify most kids with iron deficiency. It's true that kids with iron deficiency are more likely to be anemic than other kids, but the correlation is not strong enough to make the test useful. The test is wrong more often than it is right. More than two thirds of the children with a low hgb or hct have normal iron levels. They are anemic for other reasons, such as a recent viral illness or genetic trait. More disturbingly, more than two thirds of the children who are truly iron deficient will have a normal screening test. We routinely fail to identify children whose iron levels are low enough to affect their intelligence. We need better tests. In the meantime, it's important to be sure that toddlers have diets that are rich in iron or take a multivitamin with iron.
Alan Greene MD FAAPOrginally published: February 25, 2005

from this link: http://www.drgreene.com/21_1881.html



For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

p53 Protein

p53 protein overexpression in Shwachman-Diamond syndrome / In reply
Archives of Pathology & Laboratory Medicine, Oct 2002 by Dror, Yigal, Elghetany, M Tarek, Alter, Blanche P

To the Editor.-We read with great interest the paper of Drs Elghetany and Alter in the April 2002 issue of the ARCHIVES.1 Shwachman-Diamond syndrome (SDS) is an autosomal recessive multisystemic disorder characterized by varying degrees of marrow failure and a high propensity for malignant myeloid transformation into myelodysplastic syndromes (MDS) and acute myeloid leukemia.2-4 The authors found p53 overexpression in bone marrow biopsies from 9 patients with SDS. None of the bone marrow biopsies from patients with acquired aplastic anemia or acquired cytopenias and none of those from individuals in the control group had overexpression of p53 protein. Very interestingly, p53 overexpression in patients with SDS was comparable to p53 results in 46 bone marrow specimens from patients with refractory anemia. Refractory anemia is a subtype of MDS.
Although neither the method for selecting patients nor the clinical phenotype of the patients was specified in the paper, the authors' work is important and furthers our understanding of the relationship between SDS and MDS. Myelodysplastic syndrome is a preleukemic, stem cell disease with peripheral blood cytopenia, ineffective hematopoiesis, and varying degrees of bone marrow cellularity and dysplasia. Shwachman-Diamond syndrome meets many of these criteria2: it is a stem cell disorder with peripheral cytopenia, ineffective hematopoiesis,5,6 and varying degrees of bone marrow cellularity, and it carries a significantly increased risk of leukemia.2-4 In addition, scattered mild dysplastic changes in the erythroid, myeloid, and megakaryocytic precursors are commonly seen on careful examination of bone marrow biopsies of patients with SDS2 and are part of the syndrome. Further, the close relationship between SDS and MDS is reflected by similar defects in marrow stromal support of normal hematopoiesis,5 increased apoptosis mediated through the Fas pathway,6 a high frequency of clonal marrow cytogenetic abnormalities,2 and as the authors showed also by a prevalence of p53 protein overexpression that is similar to that in patients with refractory anemia.1 Therefore, SDS seems to be a myelodysplastic disorder from its inception. We therefore consider SDS to be refractory anemia 2 or refractory cytopenia according to the CCC (category-cytology-- cytogenetics) classification of childhood MDS.7 When we refer to malignant myeloid transformation in SDS, we mean stages beyond refractory anemia, namely refractory cytopenia with cytogenetic abnormality, refractory anemia with ring sideroblasts, refractory anemia with dysplasia, refractory cytopenia with excess blasts, or leukemia.
We have recently analyzed bone marrow mononuclear cells from 11 patients with SDS (2 had a clonal marrow cytogenetic abnormality), and we did not find mutations in exons 2 through 11 of the p53 gene.2 Therefore, p53 protein overexpression in SDS can result from either upregulation of the functional p53 gene (as the authors postulated) or posttranslational modification of the protein, rendering it more stable than the wild type protein, which normally cannot be detected.
YIGAL DROR, MD
Marrow Failure and Myelodysplasia Programme
Division of Hematology/ Oncology
The Hospital for Sick Children and the University of Toronto
Toronto, Ontario, Canada M5G 1X8
1. Elghetany MT, Alter BP. p53 Protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia. Arch Pathol Lab Med. 2002;126:452-455.
2. Dror Y, Durie P, Ginzberg H, et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol. 2002;30:659-669.
3. Mack DR, Forstner GG, Wilschanik M, Freedman MH, Durie PR. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology. 1996;111:15931602.
4. Smith OP, Hann IM, Chessells JM, Reeves BR, Milla P. Haematological abnormalities in Shwachman-Diamond syndrome. Br] Haematol. 1996;94: 279-284.
5. Dror Y, Freedman MH. Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood 1999;94:3048-3054.
6. Dror Y, Freedman MH. Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood. 2001;97:3011-3016.
7. Mandel K, Dror Y, Poon A, Freedman MH. Practical classification of pediatric MDS. J Pediatr Hematol Oncol. 2002;24:343-352.
In Reply.-We thank Dr Dror for his comments in support of our recent article.1 Our patients were unselected, and included all of those whose samples were available between November 1999 and November 2000. None of the patients with Shwachman-Diamond syndrome (SDS) had cytogenetic clones, and their bone marrow morphology did not show significant dysplastic features. Thus, p53 overexpression was the hallmark of the similarity between SDS and refractory anemia (RA). Dr Dror raises the interesting question regarding the relationship between this syndrome and RA. Although we agree with Dr Dror that SDS shares common features with RA, it may not be appropriate to classify all patients with this syndrome as having RA at the time of diagnosis. Other bone marrow failure syndromes, such as Fanconi anemia and Diamond-Blackfan anemia, share some features with RA as well.2,3 We are concerned that labeling SDS as RA may prompt an aggressive mode of treatment that may not be supported by data other than these similarities. Moreover, there are some indications that myelodysplastic syndromes evolving from an inherited bone marrow disease may not have the same biological behavior as primary myelodysplastic syndromes in children.4 Longterm prospective studies and the continued search for an underlying molecular defect for SDS should shed some light on this rare disease and its relationship to RA.



For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Medications that Cause Neutropenia

Here is a link to a site that lists medications that can cause neutropenia:

http://www.globalrph.com/neutropenia.htm



For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Types of Eczema

Types of Eczema (Dermatitis)
Allergic contact eczema (dermatitis): a red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign, such as poison ivy or certain preservatives in creams and lotions

Atopic dermatitis: a chronic skin disease characterized by itchy, inflamed skin

Contact eczema: a localized reaction that includes redness, itching, and burning where the skin has come into contact with an allergen (an allergy-causing substance) or with an irritant such as an acid, a cleaning agent, or other chemical

Dyshidrotic eczema: irritation of the skin on the palms of hands and soles of the feet characterized by clear, deep blisters that itch and burn

Neurodermatitis: scaly patches of the skin on the head, lower legs, wrists, or forearms caused by a localized itch (such as an insect bite) that become intensely irritated when scratched

Nummular eczema: coin-shaped patches of irritated skin-most common on the arms, back, buttocks, and lower legs-that may be crusted, scaling, and extremely itchy

Seborrheic eczema: yellowish, oily, scaly patches of skin on the scalp, face, and occasionally other parts of the body

Stasis dermatitis: a skin irritation on the lower legs, generally related to circulatory problems


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Eczema - atopic dermatitis

Merck Atopic Dermatitis Article

Great info and pictures with this article. Includes causes and treatment.


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Merck Neutropenia Article

Merck Neutropenia Article

Great article on Neutropenia, causes and degrees. Talks about inflammation of response (when ANC is below 200, inflammation response can be gone). Very detailed!


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Mitochondriopathie bei einem Kind mit Shwachman-Syndrom und Zöliakie Fallbericht = Rare combination of celiac disease and respiratory-chain-defect wit

Mitochondriopathie bei einem Kind mit Shwachman-Syndrom und Zöliakie Fallbericht = Rare combination of celiac disease and respiratory-chain-defect with Shwachman syndrome. Case report
Auteur(s) / Author(s)
CASTRO FRENZEL B. (1) ; DAS A. M. (2) ; MARG W. (1) ;
Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)
(1) Prof.-Hess-Kinderklinik, Zentrum für Kinderheilkunde und Jugendmedizin, Zentralkrankenhaus Sankt-Jürgen-Strasse, Bremen, ALLEMAGNE
(2) Universitäts-Kinderklinik Hamburg-Eppendorf, ALLEMAGNE

Résumé / Abstract
Background. The Shwachman syndrome represents one of the causes of exocrine pancreatic insufficiency, surpassed in incidence only by cystic fibrosis. It is a heriditary multi-organ disease with effects on pancreatic function, hematopoesis and growth of cartilage and bone. Case report. In our case, who presented with a rare combination of celiac disease and diabetes mellitus, we want to emphasise the large variability of clinical signs and symptoms.The pathogenesis of Shwachman syndrome is not delineated.The case presented here showed a respiratory-chain-defect in complex II, IV and V in fibroblast culture. Conclusions. We propose patients with Shwachman syndrome to investigate for respiratory-chain defect.This could help for better classification and diagnosis of this syndrome.


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Anemia of Chronic Disease as a Harmful Disease State or Beneficial Adaptation

This comes from the National Anemia Action Council: http://www.anemia.org/professionals/reviews/content.php?contentid=000234&sectionid=00014


Anemia of Chronic Disease as a Harmful Disease State or Beneficial Adaptation
NAAC Review Published: September 4, 2008
It is commonly believed that anemia of chronic disease (ACD) is an adverse consequence of systemic illness and should be treated. In this analysis, Zarychanski and Houston propose that ACD is not an adverse consequence, but a beneficial adaptive response to an underlying disease state. They present three arguments in support of this hypothesis.
First, the observation that anemia is associated with a poor prognosis is not evidence of causation. Although several studies identify anemia as an independent predictor of poor prognosis, this association cannot be considered as causation. In fact, the opposite may be true; both the degree of anemia and the prognosis may simply reflect the severity of the underlying disease. Since routinely measured clinical variables do not reliably measure inflammatory and stress responses, it is difficult to adjust for these effects. Several studies in heart disease and cancer, not specifically designed to study ACD, showed that anemia was not an independent predictor of survival when the studies were adjusted for these variables and other clinical factors.
Second, anemia of chronic disease has the characteristic of an adaptive physiologic response. ACD appears to be a highly coordinated response to systemic disease. The occurrence of several independent processes contributing to hemoglobin reduction, suggests a process of evolutionary adaptation. Iron sequestration is the best studied, and its potential beneficial effects include inhibition of bacterial growth and attenuated production of reactive oxygen species. Also, decreased bone marrow production reduces nutrient utilization in times of stress. Moderate anemia and compensatory expansion of plasma volume reduces blood viscosity, which decreases left ventricular stroke and may improve microvascular perfusion. Lastly, decreased margination of platelets and decreased scavenging of nitric oxide may also reduce thrombosis.
Third, treatment of mild to moderate anemia appears to increase mortality. If ACD is a protective measure, efforts to override this mechanism by increasing hemoglobin should elicit adverse consequences. This is seen in several studies − not specifically designed to study ACD − that have evaluated red blood cell transfusions or the use of erythropoietin stimulating agents. Among critically ill patients, patients with acute coronary syndrome or myocardial infarction, several observational studies showed transfusions to be an independent risk factor for mortality. Two recent meta-analyses of renal failure patients and cancer patients showed that treatment with erythropoietin to achieve a “normal” hemoglobin was associated with higher mortality compared to regimens designed to achieve lower target hemoglobin levels.Even if ACD is a beneficial adaptive response, this response may sometimes be excessive or insufficient, and therefore maladaptive and potentially harmful. Nevertheless, the authors believe there is sufficient evidence to advocate restraint regarding the treatment of mild to moderate ACD. The possible risks of treatment should be weighed carefully against the potential benefits before therapy to override ACD is considered.
Zarychanski R, Houston DS. Anemia of chronic disease: a harmful disorder or an adaptive, beneficial response? CMAJ. 2008 Aug 12;179(4):333-7.
NAAC Expert Commentary: In their provocative article, Zarychanski and Houston address the old age question asked by many in the medical field for years; is anemia a disease state or an adaptation? The authors postulate that anemia of chronic disease (ACD) is an adaptive response to an underlying condition that confers benefit to the patient and treatment is essentially harmful. There are many other medical conditions when pathologic states are a result of adaptation. For example, cardiomagaly in congestive heart failure, carbon dioxide retention in obstructive pulmonary disease, etc.
According to the authors, anemia may represent a special case since it is usually associated with another underlying disease or is a signal of one. Although scores of many more publication not presented here relate anemia to poor prognosis, they all rely on association and not direct causation, as pointed out by the authors. The lack of causation data does not negate the fact that anemia may still be a marker of poor prognosis and survival. In their argument they mix data derived from acute anemia (blood loss) with data (mostly meta-analysis) from studies done in chronic conditions. Although many patients seem to tolerate mild to moderate anemia, it is yet to be concluded that their quality of life (including exercise tolerance) would not improve with treatment.
Treatment of mild to moderate anemia with blood transfusion is counter-productive as stated by the authors. It is short term, requires an invasive procedure and is also associated with short and long term negative outcomes. In contrast, the use of erythropoietin (EPO) has been shown to improve both the quality of life and performance of patients suffering from renal failure and cancer. In three randomized controlled studies performed in critically ill patients, EPO raised hemoglobin, reduced exposure to transfusions in two studies and had a positive survival outcome in the last of this series. Deep vein thrombosis (DVT) has been established as risk in these patients and DVT prophylaxis is now recommended, although already the standard of care.
Dosing and hemoglobin targets have surfaced as the suspected reasons for poor outcome in both renal failure and cancer patients with or without chemotherapy treatments. To suggest that ‘treatment’ is harmful may deprive many of a better quality of life while sparing the few who suffer untoward complications.
In summary, this study contends that anemia is beneficial and an adaptive response to illness, rather than a disease state. The authors conclude that while evidence does support their hypothesis, further clinical trials are necessary to illuminate the mechanisms of these interactions. We agree more studies are needed to validate these theories, and we also encourage further exploration of the argument for anemia as a disease state. However, evidence is lacking for the authors to regard treatment of mild to moderate ACD as harmful, and some evidence also shows that treatment may in fact be beneficial. In either case, thought and care should be taken prior to instituting therapy for ACD, something the authors endorsed and a notion which should be applied to any medical therapeutic intervention.
View original published article at PubMed

Additional Materials in...
More Research Reviews in: Clinical Practice, HematologyFeature Articles: Clinical Practice, HematologyAsk The Expert: Clinical Practice, Hematology


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Shwachman Diamond syndrome-phenotypes and genotypes: when clinical research informs biology.

I read the full-text comment and it was another interesting piece.

Shwachman Diamond syndrome-phenotypes and genotypes: when clinical research informs biology.

Pediatr Blood Cancer. 2008 Oct;51(4):449-50.

Comment on:
Pediatr Blood Cancer. 2008 Oct;51(4):461-7.


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test.

I just read the full-text of this article:

Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test.
J R Soc Med. 2008 Jul;101 Suppl 1:39-43

Very interesteing. No abstract is available.


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America

Help Books

Books to help kids
Our youngest has a workbook to help him with his worries. We found others by the same author. We ordered one of them, but I wanted to post them all -- it might help someone.
What to Do When Your Temper Flares: A Kid's Guide to Overcoming Problems with Anger by Dawn Huebner, Bonnie Matthews (Illustrator)(Paperback)
What to Do When You Grumble Too Much: A Kid's Guide to Overcoming Negativity(Paperback)
What to Do When you Dread Your Bed: A Kid's Guide to Overcoming Problems with SleepBoy and a Bear: The Children's Relaxation Book
What to Do When Your Brain Gets Stuck: A Kid's Guide to Overcoming Ocd by Dawn Huebner, Bonnie Matthews (Illustrator)


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America