Almost 40% of parents of pediatric gastroenterology patients are turning to complementary and alternative medicine for their child. Lack of effectiveness of conventional therapy, school absenteeism, and adverse effects of allopathic medication are more important predictors of complementary and alternative medicine use than the type of gastrointestinal disease. Because evidence on most complementary and alternative medicine modalities in children with gastrointestinal disorders is lacking, there is an urgent need for research in this field.

© F e r r a t a S t o r t i F o u n d a t i o ndren who present over 4 years of age are in fact suffering from sporadic AML occurring in a child with DS, rather than from 'true' ML-DS. 18 In addition, ML-DS patients with a history of transient myeloproliferative disease have a significantly better outcome than children with ML-DS without documented transient myeloproliferative disease. 19 Until now, no other prognostic factors have been identified in ML-DS.The leukemic blasts from the majority of patients with ML-DS (72%) show additional cytogenetic changes apart from the constitutional trisomy 21. 20 A previous international-BFM study, performed by Forestier et al., showed that the most frequent gains involved chromosomes 8 (27%), 21 (23%), 11 (8.1%), and 19 (7.4%), whereas chromosomes X (3.2%; only females), 5 (1.5%), and 7 (2.2%) were commonly monosomic. The most frequent partial imbalances were duplication 1q (16%), deletion 7p (10%), and deletion 16q (7.4%). 20 However, the potential clinical impact of these cytogenetic abnormalities is not known and has not been well studied, mainly due to the small numbers of patients in individual series. 9,10,[20][21][22] In current treatment protocols of non-DS pediatric AML patients, stratification is based on cytogenetics and response to therapy. 23 In ML-DS, no prognostic cytogenetic groups have yet been identified, nor any other prognostic factors allowing a risk-stratified approach.We, therefore, conducted a large international study of clinical and outcome data including cytogenetic records from children with ML-DS collected from 13 collaborative study groups. Our aim was to identify differences in outcome related to cytogenetics and clinical characteristics in ML-DS. This was approached by analyzing differences in the cumulative incidence of relapse (CIR), reflecting leukemia resistance, and hence avoiding the influence of toxic (non-leukemic) events on survival estimates. This may result in risk-group stratification and risk-group directed therapy for these patients in the future. In addition, we compared the outcome of ML-DS patients in the different cytogenetic groups with that of non-DS AML patients from the same era treated on AML-BFM regimens as a reference cohort. Methods PatientsData on 451 patients with ML-DS were collected from 13 collaborative study groups participating in the International AML-BFM Study Group. For comparison, a reference cohort of non-DS AML patients (n=543) from the same treatment era, kindly provided by the AML-BFM Study Group, was used. This study was approved by the Institutional Review Boards in accordance with local legislation and guidelines.Patients were eligible if diagnosed between January 1, 1995 and January 1, 2005. Patients who were not treated with curative intent from diagnosis were excluded. The data collected at diagnosis comprised karyotype, sex, age, white blood cell (WBC) count, hemoglobin level, platelet count, immunophenotypic data and FAB morphology. In addition, we collected data on treatment, such a...

No abstract

No abstract

No abstract

We report, for the first time, a non-syndromic infant with a reversible myeloproliferative disease that harbors a germline hereditary thrombopoietin (THPO) gene mutation, a condition that is known to induce familial thrombocytosis at increasing age. In order to investigate whether somatic THPO gene mutations play a role in sporadic pediatric myeloproliferative diseases, we performed a mutation screening of a large representative cohort of pediatric acute myeloid leukemia, myeloid leukemia of Down syndrome, and juvenile myelomonocytic leukemia samples and show that gain-of-function THPO mutations are extremely rare in sporadic pediatric myeloproliferative diseases.

As a further step, we focused on the clinical definition of these items and the grading of severity adopted in MDS-CI and ACE-27, and evaluated their goodness of fit in the MDS patient population. To this purpose, Akaike information criterion (AIC) was employed which allows the evaluation of a model by combining goodness of fit and complexity (among different models, a lower AIC indicates a better trade-off between fit and complexity, while models with an AIC difference of 4 or more with respect to the reference model have considerably less support).10

information on cause of death and it is possible that some may have had progression of liver disease leading to death. Because of concerns that not all patients with SED and ZSD would respond to CA, and there is evidence that oxysterol 7 a-hydroxylase (CYP7B1) is unresponsive to CA (4), the prescribing information for Cholbam includes a warning which states: ''Monitor liver function and discontinue Cholbam in patients who develop worsening of liver function while on treatment. . .. Discontinue treatment with Cholbam at any time if there are clinical or laboratory indicators of worsening of liver disease'' (5).In summary, based upon our experience, we believe that CA is safe and has potential to improve quality of life and improve liver dysfunction in patients with ZSD who do not have end-stage liver disease.