The boys' video won $100 for SDA!

We found out today that the boys' video won $100 for Shwachman-Diamond America
Click in the post below to see the winning video!

Boys' Video for Goodsearch Contest

Helping Children Cope with Medical Procedures

I wrote two articles on Helping Children cope with Medical procedures-- the techniques have been a tremendous help in helping our boys.

Helping Children Cope with Medical Procedures: Using Social Stories

Using Humor and Fun to help Children Cope with Medical Procedures

I thought these might be helpful to some families.

Gluten Free Cookbooks

The Celiac topic comes up frequently on the SDS email list. We even have a few SDS kiddos who have celiac and SDS. We have family friends who have gluten intolerance and I have actally learned to make a few GF things for their visits. My friend says that any of Bette Hagman’s cookbooks are great. Especially the GF Gourmet Bakes Bread!

Since I have been asked about this so many times and keep having to go back to my friend to ask the name..... I decided that this time I would add it here --just in case I get asked again or anyone else may need the info.

Updates in the Management of MDS

An update from the 2007 ASH meeting

Updates in the Management of Myelodysplastic Syndromes: A Report from the 2007 American Society of Hematology (ASH) Meeting

Tips: 72 Hour Fecal Fat for Boys

Having two boys with Shwachman-Diamond Syndrome I have had to do many 72 hour fecal fat collections. When they are still in diapers, it is difficult to keep urine from contaminating the stool sample, but it can be done! First...... note that this post is going to talk about private parts---- it is part of life with SDS!

The best way to collect the stool samples for boys still in diapers--

Buy one pack of disposable diapers one size too big. Use disposable diapers that fit for the bottom layer.

1. Place the first diaper on the child inside out (plastic side toward skin).
2. Draw a circle around the area on the diaper where the penis is located.
3. Remove diaper and cut the circle out.
4. Place diaper back on child (inside out-plastic touching skin) making sure the penis fits through the hole. This will keep the urine from contaminating the stool samples collected in the diaper.
5. Place one of the larger diapers on the child in the proper fashion over the first diaper with the hole that has already been placed on the child.
6. Once the child has a bowel movement, remove diapers and scrape the stool into the proper container.

Most labs have you refrigerate or freeze the stool samples until it is brought in for analysis. Be sure to keep a food diary for several days prior to collection and the 3 days (72 hrs) of collection. This helps the doctors figure out the grams of fat ingested. Most labs say to eat a minimum of 50 grams of fat per day for a child and 100 grams for an adult.

Why keep a diary for the several days prior to collection? Remember what goes in one day comes out a day or two later!

Fecal Fat Testing - 72 hour

Very often, the fecal fat test is one of the first tests done when starting the diagnostic process for a child with failure to thrive. Children with Shwachman-Diamond Syndrome have excess fat in their stools due to pancreatic insufficiency.


Fecal Fat Testing from Medline

Stool Fat Test

AtoZ Stool fat Test

Serum Isoamylase

Serum Isoamylase is often used to test pancreatic function in SDS patients.

http://www.labcorp.com/datasets/labcorp/html/chapter/mono/sc024000.htm

Serum Trypsinogen

Here are links to information on Serum Trypsinogen. This test is often used to help determine pancreatic function in SDS kids.

http://www.nlm.nih.gov/medlineplus/ency/article/003560.htm

http://www.umm.edu/ency/article/003560.htm

http://www.labtestsonline.org/understanding/analytes/trypsinogen/test.html

http://www.healthcentral.com/ency/408/003560.html

ALP

The NIH has great information on ALP that can be found at the link below:

http://www.nlm.nih.gov/medlineplus/ency/article/003470.htm

Lab Tests On-line has good info, too:

http://www.labtestsonline.org/understanding/analytes/alp/glance.html

WebMD:

http://www.webmd.com/digestive-disorders/alkaline-phosphatase



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

ALP in SDS (Alkaline Phosphatase)

http://www.emedicine.com/ped/topic2060.htm

The emedicine article says this about Alkaline phosphatase in the SDS article:

Liver function tests

• Transaminases (ie, alanine aminotransferase, aspartate aminotransferase) may be elevated in individuals with SDS.
• Alkaline phosphatase may be within the reference range or slightly increased.
• Findings on coagulation studies are normal, and the serum bilirubin level is within the reference range.
• Hypoalbuminemia may be present secondary to malabsorption. 

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

Do Antihistamines Relieve Drug-Induced (G-CSF) Bone Pain?

Medscape Article: Do Antihistamines Relieve Drug-Induced Bone Pain?

Zyrtec may help bone pain

Bone pain after granulocyte–colony-stimulating factors continues to be a problem and appears to be more pronounced with higher doses used in stem cell transplant settings. Beyond medicating for pain, some practices have found great success with cetirizine hydrochloride (Zyrtec® , Pfizer, Inc., New York, NY) 20 mg orally per day in relieving pain. The effect is believed to be achieved through the anti-inflammatory response. If shoulder pain occurs, a rare side effect of splenic rupture should be ruled out. This appears at the web site:

http://onsopcontent.ons.org/Publications/SIGNewsletters/chemo/chemo18.1.html

Excellent Pancreatic Enzyme Resource

Pacreatic Enzymes
This site goes into the types of enzymes, what they do, the various prescription enzymes, OTC enzymes adn much more. Great resource!

The Center for Courageous Kids

The Center for Corageous Kids

Their mission is to uplift children who have life-threatening illnesses by creating experiences year round that are memorable, exciting, fun, build self-esteem, are physically safe, and medically sound.

A world class medical camping facility in the rolling hills of Scottsville, Kentucky providing a cost-free, safe, and fun camping experience for seriously ill and disabled children and their families.

Exocrine Pancreatic Insufficiency Support List

There is a new support list for those affected by Exocrine Pancreatic Insufficiency.

Exocrine Pancreatic Insufficiency

Prevalence of Pancreatic Insufficiency in Inflammatory Bowel

I have this one in full-text.

Prevalence of Pancreatic Insufficiency in Inflammatory Bowel
Diseases. Assessment by Fecal Elastase-1


Abstract Pancreatic insufficiency (PI) may be an extraintestinal
manifestation of inflammatory bowel diseases
(IBD). We report the results of a cross-sectional study that
was carried out to investigate both the prevalence of PI in
IBD patients and its clinical course over a 6-month followup
period. In total, 100 Crohn’s disease (CD) patients, 100
ulcerative colitis (UC) patients, and 100 controls were
screened for PI by the fecal elastase-1 (FE-1) test. The
decision limits employed were: £ 200 lg/g stool for PI
and £ 100 lg/g for severe PI. Patients with abnormal FE-1
values were re-tested after 6 months. Odds ratios (OR) for
PI were estimated by unconditional logistic regression
analysis. PI was found in 22 UC and 14 CD patients. The
OR for the FE-1 test £ 200 lg/g was 10.5 [95% confidence
interval (CI): 2.5–44.8] for IBD patients compared to
the controls. The risk of PI was related to three or more
bowel movements per day (OR = 25.0), the passage of
loose stools (OR = 7.7), and previous surgery (OR = 3.7).
At the 6-month follow-up, FE-1 values became normal in
24 patients and showed persistently low concentrations in
12. These patients had a larger number of bowel movements
per day (OR = 5.4), previous surgery (OR = 5.7),
and a longer duration of the disease (OR = 4.2). PI is
frequently found in IBD patients, particularly in those with
loose stools, a larger number of bowel movements/day and
previous surgery. PI is reversible in most patients, and
persistent

Interview with Blanche Alter, MD

This is from the NCI DCEG Linkage newsletter April 2001


Hematologist Blanche Alter, Ph.D., M.P.H., took a couple of unusual turns before landing in the Clinical Genetics Branch (CGB) as a cancer expert this past August. A Harvard-trained pediatric hematologist, Dr. Alter focused on clinical oncology in the 1990's, when she headed the Division of Pediatric Hematology and Oncology for the University of Texas Medical Branch in Galveston, Texas. When changing circumstances threatened to leave her with an enormous clinical oncology load and little time to pursue her research, Dr. Alter chose a path less traveled: after a career that had begun in the late 1960's, she went back to school to earn an M.P.H.

DCEG Linkage caught up with Dr. Alter to talk about her plans now that she has joined CGB as a cancer expert.

Why did you choose to go back to school rather than simply look for another position?
I decided to explore ways in which my clinical and laboratory experiences in hematology and oncology might be used in a different and challenging manner. I started looking online at catalogs for schools of public health and discovered I was very interested in all the courses, particularly biostatistics, cancer, and genetic epidemiology. Many of the clinical reviews I had done of rare hematologic syndromes were really epidemiologic in their focus.

How did you decide to take your course work at Johns Hopkins University School of Public Health?
I have a history with Johns Hopkins. Although I did my undergraduate and specialty work in Boston at Radcliffe College and later at Harvard Medical School, I received my medical degree and my pediatric training at Johns Hopkins University. Most of the people I respected told me to go to Johns Hopkins University School of Public Health. One of the faculty there shared my interest in cancer progression in patients with genetic hematologic diseases. Unfortunately, he left shortly after I arrived!

Did you have to change your plans and find a new advisor?
No. That person had several graduate students and came back to Hopkins to meet with them.
I'm here at NCI because of a collaboration with Dr. Mark Greene, Chief of CGB. For my project at Johns Hopkins, I studied patients with Fanconi's anemia. Because medicine has improved our management of their usual problem, aplastic anemia, we've discovered that these patients are living long enough to get specific types of cancer at unusually early ages. But my interest goes beyond patients with Fanconi's anemia. Patients with a number of different "benign" hematologic diseases are at an increased risk for cancer as they get older. We're seeing that we can predict the types of cancer they're likely to get. Here at NCI, I plan to explore this propensity for cancer in patients thought to have these so-called benign diseases.

Do you mean these patients are likely to get other blood-related cancers as they get older?
They get leukemia, but they are likely to get solid tumors as well. For example, Fanconi's anemia arises from a defect in DNA repair. Patients who have Fanconi's anemia are at risk of getting aplastic anemia, acute myeloid leukemia, oropharyngeal and esophageal cancers, and gynecologic cancers like cervical and vulvar cancer.
But it's not quite that simple. Sometimes the bone marrow disease in these patients is cured because they've undergone bone marrow transplantation. We have to look at what roles immunosuppression and graft-versus-host disease may play in the development of these cancers. In addition, we plan to look at the rest of the families to establish the cancer risk among heterozygotes.

Are these patients more susceptible to human papillomavirus infection?
That's one possibility. We are definitely going to look at viruses and whether they are present in these tumor biopsies. But these cancers can also arise without human papillomavirus infection. Whatever turns out to be true, we are going to learn something about cancer pathways.
I'm also looking at patients who have Diamond-Blackfan anemia, a pure red cell aplasia. At least half a dozen of these patients have developed osteogenic sarcoma as well as leukemias and other cancers. Patients with dyskeratosis congenita, an X-linked disorder, often develop oropharyngeal and gastrointestinal cancers similar to patients with Fanconi's anemia. Patients with Shwachman-Diamond syndrome often go on to develop aplastic anemia and leukemia.

How far along is your project?
I'm still trying to get all the collaborators on board. Our patients suffer from multisystem diseases. When we bring patients in, many different specialists will need to meet with them. We also want to perform extensive laboratory evaluations to understand carcinogenesis in these disorders. Eventually, we will bring in one new family a week to the Clinical Center for the study. We also plan a larger study of patients that will not come to the Clinical Center, but who will provide epidemiologic information and laboratory and tumor biopsy materials. I am still at the review stage, which will be followed by full protocol development.
By Lisa Chiu

Bone Age Delay and Bone Age Testing

This is a topic that comes up frequently on the SDS Support loop. My youngest SDS son had a mild bone age delay -- at 8.5 he had a mild delay of 3 years. My middle son has a 5-6 year bone age dealy at the age of 10.5.

Here are a few links that might be helpful:


Bone Age test

Wrist x-ray and Bone Age Info

Bone Age from Answers.com

Pancreatic Enzyme Pharmacotherapy

I have this article in full-text.


Pancreatic Enzyme Pharmacotherapy
Marcus Ferrone, Pharm.D., Massimo Raimondo, M.D., and James S. Scolapio, M.D.

Supplemental pancreatic enzyme preparations are provided to patients with
conditions of pancreatic exocrine deficiency such as chronic pancreatitis and
cystic fibrosis. These patients frequently experience steatorrhea, which occurs
from inadequate fat absorption. The delivery of sufficient enzyme
concentrations into the duodenal lumen simultaneously with meals can
reduce nutrient malabsorption, improve the symptoms of steatorrhea, and in
some cases alleviate the pain associated with chronic pancreatitis. Current
clinical practices dictate administration of lipase 25,000–40,000 units/meal by
using pH-sensitive pancrelipase microspheres, along with dosage increases,
compliance checks, and differential diagnosis in cases of treatment failure.
Despite the large number of specialty enzyme replacements available
commercially, many patients remain dissatisfied with standard therapy, and
future developments are needed to optimize treatment in these individuals.
Key Words: pancreatic enzymes, pancrelipase, pancreatitis, cystic fibrosis.
(Pharmacotherapy 2007;27(6):910–920)

Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

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]

Celiac and Pancreatic Insufficiency

This is an excellent article on Celiac and Pancreatic insufficiency.

Coeliac disease and pancreatic exocrine insufficiency

Click the above link for the entre article. Below is a small excerpt:

Historically, after diagnosis and the introduction of a gluten free diet, coeliac disease patients who experienced ongoing gastrointestinal symptoms were frequently suspected of failing to comply with their dietary restrictions.
However, evidence from a new study shows that around one third of these patients actually have a severe pancreatic exocrine insufficiency, which can be successfully managed by enzyme replacement therapy. This important finding can help substantially improve the quality of life of these patients.

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.

Is pancreatic diabetes (type 3c diabetes) underdiagnosed and misdiagnosed?

I have the full-text PDF of this article. VERY interesting!

Is pancreatic diabetes (type 3c diabetes) underdiagnosed and misdiagnosed?


Exocrine pancreatic insufficiency is frequently associated with diabetes, with high prevalence in both insulin-dependent or insulin-independent patients. Exocrine pancreatic failure has often been perceived as a complication of diabetes. In contrast, recent clinical observations lead to the notion that nonendocrine pancreatic disease is a critical factor for development rather than a sequel to diabetes. The incidence of diabetes caused by exocrine pancreatic disease appears to be underestimated and may comprise 8% or more of the general diabetic patient population. Nonendocrine pancreas disease can cause diabetes by multiple mechanisms. Genetic defects have been characterized, resulting in a syndrome of both exocrine and endocrine failure. Regulation of beta-cell mass and physiological incretin secretion are directly dependent on normal exocrine function. Algorithms for diagnosis and therapy of diabetes should therefore address both endocrine and exocrine pancreatic function.

Appetite stimulants use in cystic fibrosis.

Interesting article abstract, especially since CF is so closely related to SDS & many SDS kids end up on appetitie stimulants.

Appetite stimulants use in cystic fibrosis.

Pediatric Pulmonology, University of Michigan Health System, Ann Arbor, Michigan.
Cystic fibrosis (CF) is an autosomal recessive disease. It affects multiple body organs. The lungs and pancreas are the most affected which results in progressive lung damage and pancreatic insufficiency. Due to the disease process, CF patients require significantly higher caloric intake than recommended for other individuals. The nutritional goal for CF patients is to achieve normal growth and development and, once genetic potential is reached, to maintain good nutritional status throughout life. Evidence has shown that lung function is closely associated with nutritional status in CF and that nutritional status is an independent predictor of survival. Most CF patients are on a high calorie diet to help achieve normal growth and development and maintain good lung function. Inadequate caloric intake in CF can lead to malnutrition. Malnutrition in CF requires careful, multidisciplinary history taking, physical exam, and overall patient/family assessment. Only by determining the actual cause of the malnutrition can appropriate and safe therapies be used to treat it. Appetite stimulants, although efficacious in treating malnutrition in CF, should only be prescribed if decreased food intake secondary to inadequate appetite is the principal cause of the malnutrition and all other contributing factors have been assessed, ruled-out or treated. In this review, we attempted to summarize the use of several appetite stimulants used in CF and other diseases to improve appetite and maximize caloric intake. Pediatr Pulmonol. 2008; 43:209-219. (c) 2008 Wiley-Liss, Inc.

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.

Pancreatic Enzyme Pharmacotherapy

This is an interesting article. I have the full-text PDF and found it very interesting!

Pancreatic enzyme pharmacotherapy.

Supplemental pancreatic enzyme preparations are provided to patients with conditions of pancreatic exocrine deficiency such as chronic pancreatitis and cystic fibrosis. These patients frequently experience steatorrhea, which occurs from inadequate fat absorption. The delivery of sufficient enzyme concentrations into the duodenal lumen simultaneously with meals can reduce nutrient malabsorption, improve the symptoms of steatorrhea, and in some cases alleviate the pain associated with chronic pancreatitis. Current clinical practices dictate administration of lipase 25,000-40,000 units/meal by using pH-sensitive pancrelipase microspheres, along with dosage increases, compliance checks, and differential diagnosis in cases of treatment failure. Despite the large number of specialty enzyme replacements available commercially, many patients remain dissatisfied with standard therapy, and future developments are needed to optimize treatment in these individuals.

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond Syndrome

Link to the full-text article can be found here: Shwachman-Diamond America SDS Articles

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.
Deficiencies in the SBDS gene result in Shwachman-Diamond syndrome (SDS), an inherited bone marrow failure syndrome associated with leukemia predisposition. SBDS encodes a highly conserved protein previously implicated in ribosome biogenesis. Using human primary bone marrow stromal cells (BMSCs), lymphoblasts, and skin fibroblasts, we show that SBDS stabilized the mitotic spindle to prevent genomic instability. SBDS colocalized with the mitotic spindle in control primary BMSCs, lymphoblasts, and skin fibroblasts and bound to purified microtubules. Recombinant SBDS protein stabilized microtubules in vitro. We observed that primary BMSCs and lymphoblasts from SDS patients exhibited an increased incidence of abnormal mitoses. Similarly, depletion of SBDS by siRNA in human skin fibroblasts resulted in increased mitotic abnormalities and aneuploidy that accumulated over time. Treatment of primary BMSCs and lymphoblasts from SDS patients with nocodazole, a microtubule destabilizing agent, led to increased mitotic arrest and apoptosis, consistent with spindle destabilization. Conversely, SDS patient cells were resistant to taxol, a microtubule stabilizing agent. These findings suggest that spindle instability in SDS contributes to bone marrow failure and leukemogenesis.

A Zebrafish Model For The Shwachman-Diamond Syndrome (SDS).

I have this in full-text PDF

A Zebrafish Model For The Shwachman-Diamond Syndrome (SDS).

The Shwachman-Diamond Syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutrophil defect and skeletal abnormalities. The molecular basis for this syndrome was recently identified as a defect in a novel nucleolar protein termed the Shwachman-Bodian-Diamond syndrome (SBDS) protein. Beyond human pathological descriptions, there are little data addressing the role of SBDS during pancreas and granulocytes development. We hypothesize that sbds gene function is essential for pancreas and myeloid development in the zebrafish. By homology searching, we identified the zebrafish sbds ortholog and then analyzed its expression by reverse transcriptase-polymerase chain reaction (RT-PCR) and in situ hybridization. We found that the sbds gene is expressed dynamically during development. To study the function of sbds during development we induced loss of gene function by morpholino-mediated gene knockdown. The knockdown induced a morphogenetic defect in the pancreas, altering the spatial relationship between exocrine and endocrine components. We also noted granulopoiesis defect using myeloperoxidase as a marker. We conclude that sbds function is essential for normal pancreas and myeloid development in zebrafish. These data provide novel insight into the role of the sbds gene, and support using zebrafish as a model system to study sbds gene function and for evaluation of novel therapies.

Bone Marrow Biopsy Day: What to Expect. How to Survive.

Bone Marrow Biopsy Day. What to Expect. How to Survive. Written by a mom, this article explains what a bone marrow biopsy is, how the procedure is performed and what you can expect while at the hospital.

Dysplasia

from Answers.com

Dysplasia can affect all three lineages seen in the bone marrow. The best way to diagnose dysplasia is by morphology and special stains (PAS) used on the bone marrow aspirate and peripheral blood smear. Dysplasia in the myeloid series is defined by:

• Granulocytic series
  

1. Hypersegmented neutrophils (also seen in Vit B12/Folate deficiency)
2. Hyposegmented neutrophils (Pseudo-Pelger Huet)
3. Hypogranular neutrophils or pseudo Chediak Higashi large granules
4. Dimorphic granules (basophilic and eosinophilic granules) within eosinophils

• Erythroid series

1. Binucleated erythroid percursors and karyorrhexis
2. Erythroid nuclear budding
3. Erythroid nuclear strings or internuclear bridging (also seen in congenital dyserythropoietic anemias)
4. PAS (globular in vacuoles or diffuse cytoplasmic staining) within erythroid precursors in the bone marrow aspirate (has no bearing on paraffin fixed bone marrow biopsy). Note: One can see PAS vacuolar positivity in L1 and L2 blasts (AFB classification; the L1 and L2 nomenclature is not used in the WHO classification)
5. Ringed sideroblasts seen on Prussian blue iron stain (10 or more iron granules encircling 1/3 or more of the nucleus and >15% ringed sideroblasts when counted amongst red cell precursors)

• Megakaryocytic series (can be the most subjective)

1. Hyposegmented nuclear features in platelet producing megakaryocytes (lack of lobation)
2. Hypersegmented (osteoclastic appearing) megakaryocytes
3. Ballooning of the platelets (seen with interference contrast microscopy)

CBC

How to Interpret and Pursue an Abnormal Complete Blood Cell Count in Adults

http://www.mayoclinicproceedings.com/inside.asp?AID=957&UID=

Glossary of Hematology

http://cls.umc.edu/COURSES/CLS322/hemaglos.doc

Infections in Patients with Inherited Defects in Phagocytic Function

http://cmr.asm.org/cgi/content/full/16/4/597

Great article titled: Infections in Patients with Inherited Defects in Phagocytic Function

Hematopathology Index

The site below has a library of cells/findings on peripheral blood smears and bone marrow biopsies that may be of interest to SDS families.

http://library.med.utah.edu/WebPath/HEMEHTML/HEMEIDX.html

Article: Chronic idiopathic neutropenias and SCN

Just got the full-text of this one & it is very interesting.

Chronic idiopathic neutropenias and severe congenital neutropenia.


Departments of Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. jan.palmblad@ki.se
PURPOSE OF REVIEW: Chronic idiopathic and severe congenital neutropenias are rare disorders for which recent discoveries have highlighted mechanisms and consequences. RECENT FINDINGS: An inflammatory bone marrow milieu has been shown to be a major contributor to the pathophysiology of chronic idiopathic neutropenia. Activated T-lymphocytes with myelosuppressive properties and pro-apoptotic mediators, such as IFNgamma, TNFalpha, Fas-ligand and TGFbeta1 result in accelerated apoptosis of granulocytic progenitor cells. Decreased levels of the anti-inflammatory cytokine IL-10 further disturb the balance between survival and pro-apoptotic mediators in chronic idiopathic neutropenia. Mutations in the HAX1 gene are associated with most cases of recessive autosomal severe congenital neutropenia, while ELA2 mutations are found in most cases of autosomal dominant and sporadic cases. The role of HAX-1 protein as a regulatory step in apoptosis provides further evidence for severe congenital neutropenia as a disorder of programmed cell death. The preleukemic character of severe congenital neutropenia, particularly for patients with need for high granulocyte colony stimulating factor dosage, was recently emphasized. SUMMARY: Chronic idiopathic (or as recent data suggest, immunologic) and severe congenital neutropenias provide intriguing models for better understanding of regulation of myelopoiesis. Similarities and differences between the two disorders might help to dissect these regulatory events.

Discovering Early Molecular Determinants of Leukemogenesis

Link to the full text of this article can be found here: http://www.shwachmandiamondamerica.org/SDSarticles.html

Discovering early molecular determinants of leukemogenesis.

Departments of Medicine and Molecular and Medical Genetics, Oregon Health and Sciences University, and Northwest Veterans Affairs Cancer Research Center, Portland, Oregon, USA.
Truncating mutations of the G-CSF receptor are found during disease course in nearly half of all patients with severe congenital neutropenia. In this issue of the JCI, Liu et al. demonstrate that these mutations confer a competitive clonal advantage upon HSCs in mice and that the advantage is conditional because it is observed only in the presence of the ligand G-CSF (see the related article, doi:10.1172/JCI32704). Once activated, the mutant receptor requires the function of Stat5 in order to effect clonal expansion of this stem cell population. The results support the notion that early molecular steps in this and other neoplastic processes represent adaptations in which, through somatic mutations, "unfit" stem cells gain a measure of fitness by altering their relationships with their microenvironment.

Hypersegmented Neutrophils

This is what hypersegmented neutrophils in the peripheral blood can mean:


· Hypersegmentation of granulocytes is present in the blood of patients with megaloblastic anemia. It may also be seen in chronic kidney and liver disease, myelofibrosis, and, rarely, in iron deficiency.
· There are a number of conditions in which hypersegmented neutrophils may be seen, such as megaloblastic anemias that include folic acid deficiency and pernicious anemia. Individuals who are receiving chemotherapy or have long-term chronic infections may also have hypersegmented neutrophils.
· The cells seen in these conditions would be classified as pathological since the body is responding abnormally as a result of either a deficiency of a component needed for DNA production or because of the toxic effect that chemotherapy drugs have on DNA.

Liver disease as risk factor for cystic fibrosis-related diabetes development.

Liver disease as risk factor for cystic fibrosis-related diabetes development.

AIM: To evaluate clinical and genetic factors, besides pancreatic insufficiency, associated with increased risk of cystic fibrosis-related diabetes. METHODS: Case-control (1:1) study on 138 cystic fibrosis patients. Data were collected on gender, age at diagnosis, reason for cystic fibrosis diagnosis, family history of type 1 or 2 diabetes mellitus, pre-existing severe liver disease, and class of cystic fibrosis transmembrane regulation mutation. Moreover, information was obtained on lung involvement and degree of exocrine pancreatic insufficiency evaluated 1 year before the diagnosis of cystic fibrosis-related diabetes in patients and age-matched controls. RESULTS: Compared to controls, patients with cystic fibrosis-related diabetes had a higher probability of having already been diagnosed with liver disease (16.7% versus 1.7%, OR = 11.6, 95% CI 1.43-93.0). Moreover, in the year before diabetes onset, cases had slightly worse pulmonary function compared to controls (FEV1 = 58.4 +/- 27% predicted versus 67.4 +/- 21% predicted; p = 0.05). No significant effects related to the other factors considered were found. CONCLUSION: Severe liver disease was found to significantly increase the risk of developing cystic fibrosis-related diabetes. Patients with liver disease should be scheduled for earlier diabetes screening in order to identify and possibly treat glucose intolerance.

Physiological evaluation of the severity of pancreatic exocrine dysfunction during endoscopy.

Physiological evaluation of the severity of pancreatic exocrine dysfunction during endoscopy.

OBJECTIVES: Despite the advances in pancreatic imaging, there continues to be a need to measure exocrine function to determine which patient requires enzyme supplementation. To evaluate the potential use of a rapid endoscopic test that can be conducted by nonacademic centers, we investigated whether concentration of trypsin in food-stimulated secretion is related to trypsin synthesis and secretion. METHODS: Subjects include 22 chronic pancreatitis patients (10 mild, 5 moderate, and 7 severe radiological disease) and 11 healthy controls. During upper gastrointestinal endoscopy, pancreatic secretion was stimulated by a single 30-mL duodenal injection of an enteral diet, followed 5 minutes later by periampullary juice aspiration (endoscopic pancreatic function test [ePFT]). This was followed by a conventional 2-hour marker-perfusion diet-stimulated pancreatic trypsin secretion and synthesis study (2-hour PFT [2hPFT]). RESULTS: Severity of radiological disease was associated with a progressive loss of enzyme secretion measured by the 2hPFT. The endoscopic PFT correlated positively with 2hPFT (r2 = 0.48; P < 0.0001) and an activity of less than 5% of the average normal had a 96% specificity and 75% sensitivity for the detection of pancreatic insufficiency as defined by a loss of greater than 90% of pancreatic secretion. CONCLUSIONS: The diagnostic power of endoscopy may be enhanced by the collection of a pancreatic juice sample after enteral feed stimulation because measurement of the trypsin content will identify chronic pancreatitis patients who will be benefited by enzyme supplementation.

Characteristics of adults with and without cystic fibrosis-related diabetes.

I have this in full-text PDF--

Characteristics of adults with and without cystic fibrosis-related diabetes.

AIMS: The prevalence of diabetes in adults with cystic fibrosis (CF) approximates 25%, yet few studies have defined risk factors. We examined the association between biochemical and clinical factors and CF-related diabetes. METHODS: We performed a study in adults with CF in 2004 in Cambridgeshire, UK. Of 160 individuals, 51 had diabetes (cases) on the basis of medical history or screening using a 75-g oral glucose tolerance test, and 107 did not have diabetes (control subjects); two were excluded. We used logistic regression to model the cross-sectional association between potential risk factors and diabetes. RESULTS: The mean age was 26 (16-58) years, mean body mass index (BMI) was 21 (16-28) kg/m(2), and mean forced expiratory volume in 1 s was 60 +/- 24% (mean +/- sd). All of the cases and 88% of control subjects had pancreatic insufficiency. Cases did not differ from control subjects with respect to age, sex, body mass index, or dose of oral pancreatic enzymes. Cases were more likely to have low serum magnesium, haemoglobin, and pulmonary function, and higher serum gamma-glutamyl transferase (GGT) activity, plasma fibrinogen levels, erythrocyte sedimentation rate, use of oral corticosteroids, and number of CF-related complications. In multivariate analyses, GGT, previous organ transplantation, plasma fibrinogen and the presence of CF-related complications were independently associated with diabetes, after controlling for corticosteroid use. CONCLUSIONS: These data confirm the high prevalence of diabetes in adults with CF, and identify plasma fibrinogen and GGT, and organ transplantation as factors independently associated with CF-related diabetes. A prospective study would clarify the nature of these associations.

In vitro comparative study of three pancreatic enzyme preparations: dissolution profiles, active enzyme release and acid stability.

I have this in full-text. Very interesting

In vitro comparative study of three pancreatic enzyme preparations: dissolution profiles, active enzyme release and acid stability.

BACKGROUND: Various pancreatic enzyme preparations are used for the treatment of pancreatic insufficiency but their bioequivalence is often unknown. AIM: To determine in vitro the pH-dependent release and acid resistance of enzymes from three commercially available pancreatin capsules, two containing enteric-coated (Creon 25000; Eurobiol 25000) and one uncoated (Eurobiol 12500) microspheres. METHODS: Dissolution experiments were performed at pH values ranging from 4.0 to 5.8. Lipase, chymotrypsin and amylase activities were measured in the solution as a function of time. RESULTS: Eurobiol 25000 started to release its enzymes significantly at pH 5.0 (t(1/2) = 71 min), whereas the enzymes from Creon 25000 were only released at higher pH value (5.4; t(1/2) = 49.2 min). Unlike chymotrypsin, lipase and amylase were highly sensitive to acidic conditions at the lowest pH values tested. Both enzymes were also found to be sensitive to proteolytic inactivation at the highest pH values tested. Overall, Eurobiol 25000 released higher amounts of active amylase and lipase than Creon 25000 at the pH values usually found in duodenal contents. The uncoated Eurobiol 12500 preparation was, however, the only one that could immediately release rather high levels of active chymotrypsin and lipase at low pH (4.5). CONCLUSION: These findings suggest that pH-sensitive enteric-coated pancreatin products containing similar amounts of enzymes might not be bioequivalent depending on the pH of duodenal contents.

Prevalence of bone mineral disease among adolescents with cystic fibrosis.

I have this one in full-text. Very interesting as my two boys have osteopenia--and it seem sot be common in CF and SDS.

Prevalence of bone mineral disease among adolescents with cystic fibrosis.

OBJECTIVE: To evaluate the prevalence of bone mineral disease among adolescents with cystic fibrosis and to relate the findings with the variables studied. METHODS: The study enrolled 37 adolescents who were assessed for: nutritional status according to height/age and body mass/age ratios; bone mineral density of the lumbar spine and entire body by densitometry with dual emission X-ray; daily dietary intake according to a 3-day dietary recall; and pulmonary function by the forced expiratory volume in one second test. RESULTS: Mean age was 13.2 (+/-2.8) years. Nutritional status was adequate in 70.3 and 75.7% of patients according to the height/age and body mass/age indices, respectively; 54.1% of the patients exhibited reduced lumbar spine bone mineral density and 32.5% for the whole body. There was a positive correlation between bone mineral density and body mass index (p = 0.04). Lung disease and pancreatic insufficiency exhibited a correlation with altered bone mineral density. The dietary recall revealed adequate percentages of calcium, phosphorous and calories, according to the nutritional recommendations laid out in the European Cystic Fibrosis Consensus. The multivariate analysis indicated that these variables were not statistically significant. CONCLUSIONS: There is a high prevalence of bone mineral disease among adolescents. Good nutritional status, pancreatic enzyme replacement and control of lung disease may have a protective effect on bone mass.

The changing face of the exocrine pancreas in cystic fibrosis: pancreatic sufficiency, pancreatitis and genotype.

I have the full-text PDF of this one.

The changing face of the exocrine pancreas in cystic fibrosis: pancreatic sufficiency, pancreatitis and genotype.

(Table is included in full-text article.)Cystic fibrosis (CF) is the most frequent cause of exocrine pancreatic insufficiency in childhood. The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes CFTR protein that functions as cyclic AMP-dependent chloride channel allowing the passage of anions and secondarily water into the lumen of pancreatic ducts. Luminal chlorides are exchanged for bicarbonates. The lack of CFTR channel or its disrupted function (being the consequence of CFTR gene mutations) results in reduced volume of more acidic secretion. It has been suggested that such a situation leads to the precipitation of highly concentrated protein-containing secretion with obstruction and organ damage. The intensity of this process determines the progression of the disease. Steatorrhea is the significant symptom of classical form of CF. Residual pancreatic secretion in a subset of patients, however, allows for normal lipid digestion and absorption. Previous cross-sectional clinical studies estimated that about 85-90% of CF patients in preschool, school and older age are pancreatic insufficient. More frequent detection of mild and nonclassic forms of CF leads to higher frequency of pancreatic sufficiency (PS). The potential decline of exocrine pancreatic function, however, should be always considered. All PS patients with at least one severe or unknown CFTR mutation should be longitudinally assessed for the progression of pancreatic dysfunction. Recurrent acute and chronic pancreatitis is not a rare clinical condition in PS patients with PS: it might be the presenting symptom, even preceding CF diagnosis by several years. Potential appearance of this complication in individuals with pancreatic insufficiency demands elucidation.

Cytogenetics, blood, bone marrow and tissue

Blood & Tissue Cytogenetics

Blood Cytogenetics: Chromosomal analysis on peripheral blood is a good way to look at the constitutional chromosomal make-up or karyotype of an individual. Peripheral blood is drawn and cultured in tissue culture media supplemented with a mitogen, PHA (phytohemagglutinin), that causes the lymphocytes to grow in culture. After 48 to 96 hours in culture, metaphase chromosomes are “harvested” and slides made for chromosome analysis. Peripheral blood can be used as a substitute for a bone marrow aspirate when one cannot be obtained and circulating blasts are present.

Bone Marrow Cytogenetics: Bone marrow cytogenetic analysis is performed on patients with leukemia, lymphoma or other hematological disorders. These patients often have acquired clonal chromosomal abnormalities that can be diagnostic and/or prognostic.

Breakage Studies: Ataxia telangiectasia (AT) is a rare, autosomal recessive chromosomal breakage syndrome characterized by progressive cerebellar ataxia, telangiectasias, immune deficiency and a predisposition to malignancy. Fanconi anemia (FA) is a rare, autosomal recessive condition characterized by growth retardation, thumb abnormalities/radial aplasia, pigmentary anomalies and hematological disorders, including eventually MDS and AML. Both disorders are associated with a DNA repair defect that leads to an increased rate of spontaneous chromosomal breakage when blood is exposed to mitomycin C and/or diepoxybutane.

Solid Tumor Cytogenetics: Cytogenetic analysis can be an important adjunct to solid tumor diagnosis and management. This is particularly true in the case of the small round blue cell tumors of childhood (Ewing’s sarcoma/PNET; rhadomyosarcomas).

Tissue Cytogenetics: Solid tissue specimens can be cultured as a source for mitotic cells for chromosomal analysis. Products of conception (POC) specimens from the first trimester spontaneous abortions are often studied. Around half of these are chromosomally abnormal, typically aneuploidies. Tissues from intrauterine fetal demises or stillborns can also be studied and may help confirm abnormal prenatal results. Tissues should be of fetal, not maternal, origin (e.g. fetal tissue, membranes, villi). Internal organs/diaphragm obtained at autopsy can be used. Skin punch biopsies may also be obtained to rule out chromosomal mosaicism or to culture for biochemical and/or molecular analysis.

From this link

HLA Typing and Statistics

From this link: http://www.ibmtindy.com/faq/hla-typing.htm

HLA Typing
Special blood tests, called Human Leukocyte Antigen (HLA) typing, determine whether a patient has a suitable donor for stem cell transplant. These tests are performed on several tubes of blood drawn from the arm The matching for stem cell transplant is much more complicated than matching for red cell blood types. HLA typing is increasingly done using DNA techniques and can take several days to complete. (For information on the HLA Lab at St. Francis please refer to their on-line information at http://www.stfrancishospitals.org/hla/).

The most likely place to find a bone marrow match is within the patient's own family. Siblings (brothers or sisters) will more likely match than other relatives, such as parents, children, or cousins. All humans inherit 1/2 of their entire genetic make-up, and thus of their HLA-type, from their mother and the other 1/2 from their father. For each full sibling, a patient has a one in four (25%) chance of a full match. If you have full siblings, the chances of having a completely matched donor are:

One sibling:
25%
Two siblings:
44%
Three siblings:
58%
Four siblings:
68%
Five siblings:
76%
Six siblings:
82%
Seven siblings:
87%
Eight siblings:
90%
Nine siblings:
92%
Ten siblings:
94%

(The chance of having a donor is 1-(3/4)n, where n is the number of siblings).

With the current size of the average American family, only about 30% of patients will be found to have an acceptable HLA-matched donor within their family. Therefore, search for an unrelated donor may be necessary.

What About Unrelated Donors?
The National Marrow Donor Program (NMDP) is a federally supported organization that assists in locating unrelated donors. Currently, the NMDP has computer access to over 2 million volunteer donors from throughout the United States and other countries. How easily an unrelated bone marrow donor can be found, is dependent on the patient's HLA type. The more unique, or unusual, the HLA type, the more difficult it will be to find a sufficiently matched unrelated donor. Patients from mixed ethnic background may have very uncommon HLA- types. In addition, although the NMDP has made an enormous effort to recruit minority donors, the chances for African-Americans and Asian- Americans of finding a fully matched unrelated donor are still smaller than for Caucasian patients. Even in cases where the patient's HLA type is quite common, it can take a minimum of 4 to 6 weeks to obtain the donor's marrow. For more information about unrelated stem cell donors, and how you can become a donor, you may directly contact the NMDP (http://www.marrow.org/).

What If No Unrelated Donor Can Be Found?
In some instances, the HLA type of the patient may be so unique that finding a matched unrelated donor is impossible. If a patient cannot find a fully matched related or unrelated donor, it may be necessary to look at other options, such as using a patient's own bone marrow, a partially matched family donor or umbilical cord blood. The results of partially matched related transplants have improved considerably in the last few years. Such transplants are now feasible, but the risks are still higher than for HLA-identical sibling transplants or transplants from matched unrelated donors.

FISH Testing Info

Fluorescence in situ hybridization
In situ hybridization (ISH) is used to visualize defined nucleic acid sequences in cellular preparations by hybridization of complementary probe sequences. Probe sequences can be labeled with isotopes, but nonisotopic ISH is used increasingly as it is considerably faster, usually has greater signal resolution, and provides many options to simultaneously visualize different targets by combining various detection methods. The most popular protocols use fluorescence detection, as described here. These protocols have many applications, from basic gene mapping and diagnosis of chromosomal aberrations, to detailed studies of cellular structure and function, such as the painting of chromosomes in three-dimensionally preserved nuclei. This protocol describes fluorescence in situ hybridization (FISH) of biotin- or digoxigenin-labeled probes to denatured metaphase chromosomes and interphase nuclei. The hybridized probes are detected and visualized using fluorochrome-conjugated reagents.

This comes from the link below:

FISH

FISH Definition

From NCI:

fluorescence in situ hybridization (floor-EH-sents in SY-too HY-brih-dih-ZAY-shun)

A technique used to look at chromosomes (the parts of the cell that contain genetic information in the form of DNA) or genes (specific regions of DNA in chromosomes that make RNA and proteins). Pieces of DNA containing a fluorescent dye are made in the laboratory and added to cells on a glass slide. When viewed under a microscope with a special light source, parts of chromosomes or genes that bind the pieces of DNA show up as colored. Also called FISH.

FISH Testing

FISH stands for Fluorescence In-Situ Hybridizaton. Most people with SDS have FISH testing done on their bone marrow sampls when they have their bone marrow biopsies. FISH cn also be done on peripheral blood samples.


FISH

Site above has an illustration, recorded explanation and written definition.

FISH Fact Sheet

The Father's Network

The Father's Network

The Father's network's mission is to celebrate and support fathers and families raising children with special health care needs and developmental disabilities.

Sibling Support Project

Sibling Support Project

The Sibling Support Project is a national effort dedicated to the life-long concerns of brothers and sisters of people who have special health, developmental, or mental health concerns.

I have this one in full-text PDF.

New criteria for impaired fasting glucose and screening for diabetes in cystic fibrosis.

Cystic fibrosis-related diabetes mellitus (CFRD) is the most frequent comorbidity in cystic fibrosis. Its clinical relevance is stressed by the association with increased mortality, and decreased pulmonary and nutritional status. An annual oral glucose tolerance test (OGTT) is recommended as a screening test for CFRD, but this is often not realised because of its time- and resource-consuming nature. Therefore, alternative approaches are welcome. In 2003, the American Diabetes Association (ADA) lowered the cut-off point separating normal from elevated fasting plasma glucose from <6.1 mmol x L(-1) to <5.6 mmol x L(-1), suggesting the performance of an OGTT only in those with impaired fasting glucose (IFG; range 5.6-6.0 mmol x L(-1)). The current authors tested whether this approach was reliable for the early identification of patients with CFRD. OGTTs from 1,128 patients (53% males; 47% females; median age 17.1 yrs) were available for analysis. A total of 101 (8.9%) OGTTs were classified as diabetic. The new ADA criteria for IFG increased the sensitivity to 82% (versus 65%) and decreased the specificity to 70% (versus 94%) compared with the old criteria used to identify patients with diabetic OGTTs. In conclusion, the American Diabetes Association approach of using impaired fasting glucose as an indication for performing selective oral glucose tolerance tests is definitely unsuitable when aiming at the early identification of patients with cystic fibrosis-related diabetes mellitus, and it cannot replace annual oral glucose tolerance tests.

Epidemiology of cystic fibrosis-related diabetes.

I have the full-text PDF of this one.

Epidemiology of cystic fibrosis-related diabetes.

OBJECTIVES: Cystic fibrosis-related diabetes (CFRD) has emerged as an important complication of CF. To better understand who is at risk of developing CFRD, to gain insight into the impact of CFRD on pulmonary and nutritional status, and to assess the association of CFRD with various practice patterns and comorbid conditions, we characterized the Epidemiologic Study of Cystic Fibrosis (ESCF) patient population. STUDY DESIGN: Analyses were performed on the 8247 adolescents and adults who were evaluated at one of 204 participating sites during 1998. CFRD was defined as the use of insulin or an oral hypoglycemic agent at any time during the year. RESULTS: Previously reported risk factors for CFRD including age, gender (female), and pancreatic insufficiency were confirmed in this study. Patients with CFRD had more severe pulmonary disease, more frequent pulmonary exacerbations, and poorer nutritional status as compared with those without diabetes. CFRD also was associated with liver disease. CONCLUSIONS: CFRD is a common complication in adolescents and adults that is associated with more severe disease.

Insulin versus oral agents in the management of Cystic Fibrosis Related Diabetes: a case based study.

I have the full-text PDF of this one.

Insulin versus oral agents in the management of Cystic Fibrosis Related Diabetes: a case based study.

BACKGROUND: Insulin is the recommend therapeutic agent of choice for the management of Cystic Fibrosis Related Diabetes (CFRD), despite only sub-optimal reductions in glycemic control and increased morbidity and mortality reported by centers using this agent. The newer insulin sensitizing agents demonstrated to have anti-inflammatory mechanisms may provide an alternative management option for CFRD. METHODS: A prospective case based therapeutic comparison between insulin, sulfonylurea, metformin and thiazolidinedione was observed over one decade with 20 CFRD patients diagnosed using American Diabetes Association guideline standards. Patients entering the study elected treatment based on risk and benefit information provided for treatment options. Patients receiving organ transplant or requiring combination diabetic medications were excluded from the study. RESULTS: No statistical advantage was achieved regarding overall glycemic control for oral agents over insulin. Additional outcome measures including changes in weight, liver function testing and FEV1 were not statistically significant. CONCLUSION: Insulin alone may not be the only therapeutic option in managing CFRD. Oral hypoglycemic agents were equally effective in treating CFRD and may provide an alternative class of agents for patients reluctant in using insulin.

A review of the management of two common clinical problems found in patients with cystic fibrosis: cystic fibrosis-related diabetes and poor growth.

I have the full-text in PDF:

A review of the management of two common clinical problems found in patients with cystic fibrosis: cystic fibrosis-related diabetes and poor growth.

BACKGROUND: Cystic fibrosis-related diabetes (CFRD) and glucose intolerance often occur in teens and adults with CF. The initial deficiency is an impaired first-phase insulin response; as patients age, peak insulin response is delayed and less robust than normal. Decreased insulin sensitivity (insulin resistance) is also present in patients with CF. Insulin is the only currently recommended therapy for all types of CFRD, and many clinicians find that basal/bolus regimens are optimal. Another common finding in children with CF is poor linear growth and inadequate weight gain. Recombinant human growth hormone (rhGH) is being explored in this patient population; studies overall show improvements in height and weight, without development of glucose intolerance. CONCLUSIONS: rhGH may be a useful growth-promoting therapy in children with CF. Copyright (c) 2007 S. Karger AG, Basel.

I have this in full-text PDF.

Use of sensor-augmented insulin pump in patient with diabetes and cystic fibrosis: evidence for improvement in metabolic control.

Cystic fibrosis-related diabetes (CFRD) is a frequent complication of cystic fibrosis. We report the significant improvement of diabetes control and quality of life in a CFRD patient using the sensor-augmented insulin pump. The system gives the patient the highest degree of flexibility, which is required in CFRD since food intake and activity levels vary widely from day to day, depending on the rapid changes of health status.

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