eMedicine MDS article updated

Read the full article here

New classification for myelodysplasia

In order to properly treat myelodysplasia syndrome, Down syndrome–related diseases have been reclassified as a separate entity.

Sharon M Castellino, MD, FAAP Wake Forest University Health Sciences
Timothy P Cripe, MD, PhD Cincinnati Children’s Hospital Medical Center
Scott C Howard, MD Cincinnati Children’s Hospital Medical Center

The myelodysplasia syndromes (MDS) are clonal stem cell disorders characterized by progressive cytopenia or cytopenias, usually in the presence of a hypercellular bone marrow and multilineage dysplasia. Usually, all 3 cell lines (myeloid/monocyte, erythroid, megakaryocyte) are involved. Myelodysplasia syndrome is rare in childhood, and most children have a rapidly progressive course. Myelodysplasia disorders have been defined by their predilection to evolve into acute myeloid leukemias (AML), yet not all cases terminate in leukemia.


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

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome.

Bone Marrow Transplant. 2008 May 26.

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome.
Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, Smolarek T, Bleesing J, Hansen M, Jodele S, Jordan M, Filipovich AH, Mehta PA.

[1] 1Department of Hematology Oncology, Cincinnati Children's Hospital and Medical Center, Cincinnati, OH, USA [2] 2Division of Hematology Oncology, Cardinal Glennon Children's Medical Center, St Louis, MO, USA.

Allogeneic hematopoietic stem cell transplantation (HSCT) is the only potentially curative treatment for the BM dysfunction seen in patients with Shwachman-Diamond syndrome (SDS). Historically, these patients have fared poorly with intensive conditioning regimens with increased regimen-related toxicity especially involving the heart and lungs. We report our institutional experience with a reduced-intensity-conditioning protocol in seven patients with SDS and BM aplasia or myelodysplastic syndrome/AML. The preparative regimen consisted of Campath-1H, fludarabine and melphalan. Four patients received matched related marrow and three received unrelated stem cells (two PBSCs and one marrow). All but one was 8 of 8 allele HLA matched. All patients established 100% donor-derived hematopoiesis. No patient in this cohort developed grades III-IV GVHD. One patient had grade II skin GVHD that responded to systemic corticosteroids and one had grade I skin GVHD, treated with topical corticosteroids. Two out of seven patients developed bacterial infections in the early post transplant period. Viral infections were seen in four out of seven patients and were successfully treated with appropriate antiviral therapy. All patients are currently alive. These data indicate that HSCT with reduced-intensity conditioning is feasible in patients with SDS and associated with excellent donor cell engraftment and modest morbidity.Bone Marrow Transplantation advance online publication, 26 May 2008; doi:10.1038/bmt.2008.151.


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

Depression-Free Naturally:7 Weeks to Eliminating Anxiety, Despair, Fatigue and Anger from Your Life

A friend told me about this book. She got it to help her daughter with Anxiety. You can read an excerpt here: Depression-Free Naturally 7 Weeks to Eliminating Anxiety, Despair, Fatigue and Anger from Your Life

Heel Pain in Children

Heel Pain in Children

Heel pain, unlike the heel spurs, that occur in adults is very uncommon in children. Of those children who do get heel pain, by far the most common cause is a disturbance to the growing area at the back of the heel bone (calcaneus) where the strong achilles tendon attaches to it. This is known as Sever's disease or calcaneal apophysitis (inflammation of the growth plate). It is most common between the ages of 10 to 14 years of age. These are one of several different 'osteochondroses' that can occur in other parts of the body, such as at the knee (Osgood-Schlatters Disease).

To read the rest of the article, click on the link above. It has great information about the formation of growth plates,what causes heel pain, etc.

Skeletal Development

I found this wonderful site that explains skeletal development from conception until adulthood.... explains when growth plates should form, when oddifcation centers should be complete, etc. It is a great resource.

Skeletal Development

Liver Blood Enzymes

Liver Blood Enzymes Article from MedicineNet

This article is very detailed! Six pages of information. This is the introduction, to read the entire article, please click on the link above.

Introduction
An initial step in detecting liver damage is a simple blood test to determine the presence of certain liver enzymes in the blood. Under normal circumstances, these enzymes reside within the cells of the liver. But when the liver is injured, these enzymes are spilled into the blood stream.

Among the most sensitive and widely used of these liver enzymes are the aminotransferases. They include aspartate aminotransferase (AST or SGOT) and alanine aminotransferase (ALT or SGPT). These enzymes are normally contained within liver cells. If the liver is injured, the liver cells spill the enzymes into blood, raising the enzyme levels in the blood and signaling the liver damage.



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

What are the differences between Celiac and SDS?

A question came up on our support group, so I thought I would share my answer here. I am not a doctor, this is just my understanding. I thought it might be helpul for others.

What differences are there between Celiac and SDS?

While both Celiac and SDS cause fat malabsorption, the difference is the cause. Celiacs cannot tolerate wheat gluten. The gluten flattens the cilia of the intestines (damages them) and the intestines then cannot absorb nutrients and fat as they should. In severe cases of celiac, the blood counts can be affected due to nutritional deficiencies. Once the person stops ingesting gluten, the cilia in the intestines heal and the person starts to absorb nutrients and counts and deficiencies are reversed. Fat malabsorption in SDS comes from pancreatic exocrine dysfunction. Meaning that the pancreas does not produce enough enzymes for the person to digest food properly, most notably fat. People with SDS have bone marrow dysfunction that causes low blood counts (most frequently neutropenia, but other cell lines can be affected) These counts do not usually improve once the malabsorption is treated with pancreatic enzyme replacement therapy.

Bone Pain Can Be A Sign Of Myeloma - Patients And Doctors Join Forces To Raise

http://www.medicalnewstoday.com/articles/108159.php
Bone Pain Can Be A Sign Of Myeloma - Patients And Doctors Join Forces To Raise Awareness Of Early Myeloma Diagnosis
Main Category: Bones / OrthopaedicsAlso Included In: Cancer / Oncology; Pain / AnestheticsArticle Date: 21 May 2008 - 2:00 PDT

Myeloma Euronet, the European Network of Myeloma Patient Groups, and EFORT, the European Federation of National Associations of Orthopaedics and Traumatology, have joined efforts to highlight the importance of early myeloma diagnosis. A recent international survey1 conducted by Myeloma Euronet among patients and physicians has revealed that advanced disease stage due to late diagnosis constitutes one of the greatest barriers to myeloma treatment and care. A study published last year in the Quarterly Journal of Medicine has confirmed that a prolonged delay in the diagnosis of myeloma does have a significant impact on disease-free survival.2Bone pain is one of the most frequent symptoms of multiple myeloma, an increasingly common form of bone marrow cancer that is incurable but treatable. Myeloma affects around 80,000 people in Europe at any one time. "It can happen that myeloma patients go undiagnosed for years and sometimes they receive treatment for their bone pain that actually makes matters worse. This is why it is so important to check for myeloma whenever there is bone pain," says Anita Waldmann, President of Myeloma Euronet. "This is an unprecedented partnership of cancer patients and orthopaedic surgeons and traumatologists across Europe and we are very excited that EFORT has agreed to inform its members of the need to routinely check for myeloma when seeing patients who report pain in the bone or in the back," Ms. Waldmann concludes. Prof. Karl-Göran Thorngren, President of EFORT, agrees and adds: "We know that back pain can be a symptom of various cancer types, including pancreatic cancer, colon cancer and multiple myeloma, and we realise that a diagnosis as early as possible is extremely important. This issue has to be addressed across medical disciplines and we are more than happy to take steps in that direction, for example, by means of our Newsletter going out to more than 30,000 orthopaedic surgeons and traumatologists across Europe." Myeloma Euronet and EFORT have also jointly issued a poster entitled "Back Pain - Could be Myeloma!" that can be downloaded from the Myeloma Euronet Web site at www.myeloma-euronet.org, and EFORT has granted Myeloma Euronet a free booth space at the upcoming 9th EFORT congress where the patient network can inform the participants about this issue. The congress will be held from 29 May - 1 June in Nice, France, and the President of Myeloma Euronet will also be available for interviews at the congress press conference to be held on 30th May at 9:30 a.m. in the Acropolis Convention Centre. Myeloma can have various other non-specific symptoms, including but not limited to, anaemia and renal failure, and patients therefore present to a range of medical professionals, such as general practitioners or nephrologists. For this reason, the European section of the World Organization of National Colleges, Academies and Academic Associations of General Practitioners/Family Physicians (WONCA), have invited Myeloma Euronet to their European congress in September this year, to raise awareness of the importance of an early myeloma diagnosis, and Myeloma Euronet will also approach the European Renal Association. Myeloma Euronet is a Belgian-registered international non-profit organisation of multiple myeloma patient groups in 18 European countries dedicated to raising the awareness of multiple myeloma. Myeloma Euronet also provides information on myeloma diagnosis, treatment and care and advocates the cause of myeloma at the European level. EFORT works on behalf of the European Orthopaedic and Traumatology community, to secure mobility, musculoskeletal health and quality of life. EFORT unites European national orthopaedics societies from 36 European countries with about 35,000 members. References 1 A full survey report is available for download at http://www.myeloma-euronet.org/2 Kariyawasan CC, Hughes DA, Jayatillake MM, Mehta AB: Multiple myeloma: causes and consequences of delay in diagnosis. QJM. 2007 Oct;100(10):635-40. Epub 2007 Sep 10.

Splinter Removal and Information

Splinter Removal

Good article on pediatric splinters for anyone interested. Goes into details about types of splinters, removal and what types of infection (fungal, bacterial, etc) various materials (wood, glass, metal) can cause

Rashes, skin infections-links to pictures

Ever wonder what type of rash your child has? Here are a few links that may be helpful in determining what type of rash your child has! It shows pictures of Lyme disease, Mulluscum, ring worm, cellulitis, boils, pediatric scabies, dermatitis,moles, warts, herpes, etc. Check out the link below for pictures.

Rashes, dermatitis, molluscum and Abscesses

Undiagnosed Diseases Program at NIH

Undiagnosed DIseases Program at NIH Visit the link above for more information and FAQs, etc...Click here to read the NIH Press Release

Here is a small bit of what the site says:

Undiagnosed Diseases Program
Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program pursues two goals:


To provide answers to patients with mysterious conditions that have long eluded diagnosis
To advance medical knowledge about rare and common diseases
The program is trans-NIH in scope. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases (ORD) and the NIH Clinical Center. Many medical specialties will contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who may participate in the program's clinical research.

Any longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that may be referred to this program, a very limited number will be invited to proceed in the study at the discretion of the program’s medical team.

For more information please call (866) 444-8806

Boils: Medical Articles

http://www.medicinenet.com/boils/article.htm



A boil, also referred to as a skin abscess, is a localized infection deep in the skin. A boil generally starts as a reddened, tender area. Over time, the area becomes firm and hard. Eventually, the center of the abscess softens and becomes filled with infection-fighting white blood cells that the body sends from the bloodstream to eradicate the infection. This collection of white blood cells, bacteria, and proteins is known as pus. Finally, the pus "forms a head," which can be surgically opened or spontaneously drain out through the surface of the skin.



Click on the link above to read the entire article from MedicineNet. Article includes pictures and treatment options, etc.

For more info on boils, here are some good sites:

Boils on DermNet

AOCD Boil Article

eMedicine Boil Article

Mayo Clinic Boil Article

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI

This is a new article on SDS. I have the full-text PDF and it really is quite interesting!

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.
Toiviainen-Salo S, Mäkitie O, Mannerkoski M, Hämäläinen J, Valanne L, Autti T.
Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.

Shwachman-Diamond syndrome (SDS) is an autosomal recessive condition that results from mutations in the SBDS gene, at chromosome 7q11. Main features include exocrine pancreatic failure, neutropenia and skeletal dysplasia. This study investigated brain structures by magnetic resonance imaging (MRI) in patients with SDS. MRI of the brain was performed in nine patients (7 males, age range 7-37 years) with SDS and mutations in the SBDS gene and in 18 age- and gender-matched controls. MRI images were assessed visually, and volumetric analyses of the brain matter and structural midsagittal measurements were performed. Eight out of nine SBDS mutation-verified patients reported learning difficulties. Patients with SDS had smaller occipitofrontal head circumferences than the controls (Z-score -1.3 vs. +0.3, P = 0.021), and decreased global brain volume (1.74 L vs. 1.94 L, P = 0.019); both gray matter (P = 0.042) and white matter (P = 0.007) volumes were reduced. Patients with SDS had no macroscopic brain malformations, but they had significantly smaller age- and head size-adjusted areas of posterior fossa (P = 0.006), vermis (P = 0.002), corpus callosum (P = 0.020), and pons (P = 0.002), and significantly larger cerebrum-vermis ratio (P < 0.0001) than the healthy controls. SDS patients had structurally smaller posterior fossa and cerebellar vermis, corpus callosum, and brainstem than the healthy controls. The MRI findings may be related to the neuropsychological features described in SDS. (c) 2008 Wiley-Liss, Inc.

Reticulocyte Info From WebMD

http://www.webmd.com/a-to-z-guides/reticulocyte-count

A reticulocyte count is a blood test that measures how fast red blood cells called reticulocytes are made by the bone marrow and released into the blood. Reticulocytes are in the blood for about 2 days before developing into mature red blood cells. Normally, about 1% to 2% of the red blood cells in the blood are reticulocytes.
The reticulocyte count rises when there is a lot of blood loss or in certain diseases in which red blood cells are destroyed prematurely, such as hemolytic anemia. Also, being at high altitudes may cause reticulocyte counts to rise, to help you adjust to the lower oxygen levels at high altitudes. Click on the link above to read the rest of hte 4 page WebMD article

Reticulocytes in Peripheral Blood

http://www.umm.edu/imagepages/1491.htm

http://www.nlm.nih.gov/medlineplus/ency/imagepages/1491.htm

In the presence of some anemias, the body increases production of red blood cells (RBCs), and sends these cells into the bloodstream before they are mature. These slightly immature cells are called reticulocytes, and are characterized by a network of filaments and granules. Reticulocytes normally make up 1% of the total RBC count, but may exceed levels of 4% when compensating for anemia.

Neutrophil Dysfunction Classification

Neutrophil Dysfunction

Numerous disorders may cause neutropenia, which is defined as an absolute reduction in the number of circulating neutrophils.
The link above takes you to a page with the classification and diganosis info.

Shwachman-Diamond Syndrome: CT Appearance

Shwachman-Diamond Syndrome: CT appearance

Steatorrhea and pancreatic insufficiency in Shwachman syndrome.

this is very old….. more and more archives are making it to the net as various companies and journals get them added…..interesting, nonetheless.


Steatorrhea and pancreatic insufficiency in Shwachman syndrome.
Gastroenterology. 1982; 83(1 Pt 1):22-7 (ISSN: 0016-5085)
Hill RE; Durie PR; Gaskin KJ; Davidson GP; Forstner GG
Fat absorption was assessed on two or more occasions in 12 of 14 patients with Shwachman syndrome. Of 11 children who initially had steatorrhea, 6 were subsequently found to have normal fat excretion. In 10 of these 11 patients the last estimate was smaller than the initial estimate after an interval of 0.3-12.7 yr. The most dramatic improvement occurred under 4 yr of age but improvement appeared to continue over a more extended period where sufficient follow-up was available. All patients had pronounced pancreatic insufficiency as tested by duodenal drainage corrected by nonabsorbable marker under stimulation with cholecystokinin and secretin. Pancreatic lipase secretion was assessed in 3 patients with steatorrhea and 5 without steatorrhea (73% of the surviving patients) using a sensitive assay which used maximum stimulation with colipase. Pancreatic lipase secretion was less than 2% of normal mean secretion in the steatorrheic patients and ranged from 3.7% to 13.6% in the patients without steatorrhea. These results indicate that fat absorption improves in the majority of patients with Shwachman syndrome and appears to be associated with marginal improvement in pancreatic lipase secretion. Due to the occult nature of bowel complaints in older patients, the diagnosis may be overlooked unless careful screening for pancreatic function takes place.

Pancreatic Exocrine Function Tests

Pancreatic Exocrine Function Tests

There is a brief overview of the topic....with a subscription, you can read the entire thing. Excellent info on the testing.

Treatment of Shwachman Syndrome by Japanese Herbal Medicine (Juzen-Taiho-To): Stimulatory Effects of Its Fatty Acids on Hemopoiesis in Patients

Treatment of Shwachman Syndrome by Japanese Herbal Medicine (Juzen-Taiho-To): Stimulatory Effects of Its Fatty Acids on Hemopoiesis in Patients

The full-text article from Stem Cells can be accessed here: Shwachman-Diamond America

Worried Kids - Anxiety Disorder -Great Book

I just got this book last week and it seems like a great book. It is titled Worried No More: Help and Hope for Anxious Children by Aureen Pinto Wagner

It says it is for Parents, school and healthcare professionals.

It includes highly effective practical strategies, specific how to steps and really is clear and easy to understand like the cover says!

The chapters include case studies of a few children (The many faces of fear), normal fears and anxieties, when does anxiety become a problem…… then goes into Anxiety disorders and problems. Such as Separation anxiety disorder, generalized anxiety disorder, specific phobias, social anxiety, OCD, PANDAS, PTSD, Panic disorder, school phobia. It also has a chapter that tells you how to tell the difference between the anxiety disorders….

Goes into disorders associated with anxiety (Depression, Tourette’s, ADHD, Autism, Asperger’s, trichotillomania, body dysmorphic disorder,eating disorders, etc)

Also has sections on:

warning signs and signals
what causes anxiety disorders
cognitive behavioral therapy for anxiety
when should medication be considered
safety of meds
what parents can do to help
what schools can do to help
an action plan at school
challenges on the road to recovery (meltdowns, etc)
strategies at a glance


AND…. It even goes into writing and reading difficulties associated with anxiety along with inability to complete assignments, and a whole lot more.



Includes forms and tools—

Red Blood Cell Indices

Red Blood Cell Indices site
Great information about RBC, MCV, MCHC, Hgb, HCT, MCH, RDW, Platelet count,

MCV

The MCV (Mean Corpuscular Volume) reflects the size of red blood cells by expressing the volume occupied by a single red blood cell.
Cells of normal size are called normocytic, smaller cells are microcytic, and larger cells are macrocytic. These size categories are used to classify anemias. Normocytic anemias have normal-sized cells and a normal MCV; microcytic anemias have small cells and a decreased MCV; and macrocytic anemias have large cells and an increased MCV. Under a microscope, stained red blood cells with a high MCV appear larger than cells with a normal or low MCV.

Normocytic anemia (normal MCV) can be caused by kidney and liver disease, bone marrow disorders, or excessive bleeding or hemolysis of the red blood cells.

Increased readings may indicate macrocytic anemia (high MCV) or B6 or Folic Acid deficiency.

Lack of iron in the diet, thalassemia (a type of hereditary anemia), and chronic illness are the most common causes of microcytic anemia (low MCV).

this information comes from the following website: http://www.saanendoah.com/hemo-mcv.html