CMT Pediatric Scale
Ontology highlight
ABSTRACT: Information about how different forms of CMT affect children is not readily available because there are not good methods to measure impairment of children with CMT. The purpose of this project is to develop and test such a method and to then test this scale to ensure that it is an effective measurement of impairment of CMT in children, that the children tolerate it well, that different investigators using this method obtain similar results and that changes over time with the scale allow measurement of progression of CMT in the children. Primary Objective: To develop and test the CMT Peds scale (CMTPedS) in children with CMT in order to refine the scoring for future natural history and therapeutic trials. Secondary Objective: We propose to test the sensitivity of the CMT Peds Scale in a longitudinal study and compare the CMT Peds Scale with the Children's Quality of Life scale CHQ-PF50. 2000 patients <21 years of age with various forms of CMT will be evaluated at baseline and at subsequent annual follow up visits when possible. This first study release makes available data of n=208 study participants.
REPOSITORIES: dbGaP
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Project description:Intervention 1: Intervention group receives mindfulness-based stress reduction(MBSR). This is an eight-week group training program, Whit a meeting held every week for two hours, in which patients experientially practice body scan, sitting media, mindful walking, hatta yoga, mindful eating. Intervention 2: Control group doesn’t receive any intervention. The group to the questionnaires in Pre test and post test.
Primary outcome(s): Cancer related fatigue. Timepoint: Pre test and post test. Method of measurement: Fatigue questionnaire.;Cancer related cognitive impairment. Timepoint: Pre and post test. Method of measurement: Wechsler memory scale-Revised.;Fear of cancer recurrence. Timepoint: Pre and post test. Method of measurement: Fear of cancer recurrence inventory.;Self management strategies. Timepoint: Pre and post test. Method of measurement: Smart.
Study Design: Randomization: Randomized, Blinding: Not blinded, Placebo: Not used, Assignment: Other, Purpose: Supportive, Randomization description: One methods of randomization in studies is random blocking, in this way, the number of people assigned to each group is usually approximately the same. In this method, blocks are formed based on the desired variables, and within each block, half of the intervention and half as the control are considered.The main object of this method is to balance the number of participants in each group.
| 2496134 | ecrin-mdr-crc
Project description:Micronutrient deficiencies and environmental exposures have been to known to adversely impact brain and nervous system functions in adults and children worldwide. However, few studies have examined the short and long-term impact of these risk factors on neurodevelopmental outcomes in children in low-income countries, where the effects are likely to be more pronounced due to limited resources for monitoring and insufficient regulations. Biological risk factors of relevance include micronutrient deficiencies such as zinc and exposure to heavy metals such as lead and mercury. Studies have suggested an association between neurodevelopmental impairment and micronutrient deficiency as well as exposure to a number of heavy metals and environmental toxins. Moreover, findings also suggest that risk factors for adverse developmental outcomes that are independently significant may have the potential for causing cumulative increases in adverse effects. In Sub-Saharan Africa, severe malaria is a leading risk factor for long-term neurocognitive impairment in children. Zinc deficiency or exposure to heavy metals could influence risk of severe malaria, modify the risk of neurocognitive impairment in children with severe malaria, or independently affect risk of neurocognitive impairment. Untargeted analyses for potential environmental exposures or metabolomic changes in children with cerebral malaria vs. without cognitive impairment or in children with higher vs. lower cognitive scores, could also identify new risk factors for neurodevelopmental impairment in Ugandan children with cerebral malaria.In our completed study in Kampala, we assessed neurologic and developmental impairment in children with cerebral malaria [CM] or severe malarial anemia [SMA], as compared to health community children from the same extended household as the children with CM or SMA. As an extension of this study, we are interested in determining levels of micronutrients such as zinc in the population, and in addition, determining exposure levels of heavy metals (lead, mercury, copper, manganese etc.) in samples collected from children with severe malaria and community controls. The primary hypotheses of this study is that nutrient deficiencies or exposure to heavy metals influence short and long term neurocognitive outcomes in healthy community children and in children with severe malaria, and that children with cerebral malaria have specific metabolomic changes that relate to long-term neurocognitive impairment. The specific aims of our study are:Aim 1: To determine levels of zinc, heavy metals, and biomarkers associated with inflammation in children presenting with different forms of severe malaria (SM) and in healthy community children (CC). The working hypothesis of this aim is that 1) children with SM will have lower zinc levels compared to CC; 2) children with SM will present with higher toxic metal exposure and higher levels of biomarkers associated with inflammation than CC.Aim 2: To investigate how micronutrient deficiency, toxic metal exposure and inflammatory biomarkers affect short and long term neurodevelopmental outcomes and growth in children with severe malaria and community children (CC).The working hypothesis of this aim is that the lower levels of zinc, and presence of toxic metals in high concentrations will independently contribute to worsening neurodevelopmental outcomes and worsening growth over time in children with severe malaria and in community children. An alternate hypothesis is that micronutrient deficiency, toxic metal exposure and inflammatory states may interact with each other and with severe malaria to produce greater neurodevelopmental impairment, i.e., that the contribution is not independent but interactive.Aim 3: To determine whether the CSF metabolome differs according to level of neurodevelopmental impairment in children with cerebral malaria. The working hypothesis of this aim is that neurodevelopmental impairment in children with cerebral malaria is associated with changes in the CSF metabolome.
2017-09-27 | ST000877 | MetabolomicsWorkbench
Project description:Intervention 1: In the intervention group patient should use sachet of Malva, 12 mg in 3 dosage that should brewed in boiled water, from first day of radiation until end of that.(each pocket is 4 g). Intervention 2: All patients in control group take powder of placebo which is designed for this study in 4 mg packets in three dosages a day orally with a glass of hot water.;Prevention;Placebo;In the intervention group patient should use sachet of Malva, 12 mg in 3 dosage that should brewed in boiled water, from first day of radiation until end of that.(each pocket is 4 g);All patients in control group take powder of placebo which is designed for this study in 4 mg packets in three dosages a day orally with a glass of hot water.
Primary outcome(s): Anal Burning. Timepoint: Every 3 weeks. Method of measurement: visual analog scale 0-10.;Diarrhea. Timepoint: every 3 week. Method of measurement: visual analog scale 0-10.;Fecal incontinence. Timepoint: every 3 weeks. Method of measurement: visual analog scale.;Fecal urgency. Timepoint: every 3 weeks. Method of measurement: visual analog scale.;Anal bleeding. Timepoint: every 3 weeks. Method of measurement: visual analog scale.;Excretion of mucous. Timepoint: every 3 weeks. Method of measurement: visual analog scale.
Study Design: Randomization: Randomized, Blinding: Triple blinded, Placebo: Used, Assignment: Parallel, Purpose: Prevention.
| 2479569 | ecrin-mdr-crc
Project description:Rationale: We previously generated genome-wide expression data in children with septic shock, based on whole blood-derive RNA, having the potential to lead the field into novel areas of investigation. Objective: Herein we seek to validate our data through a bioinformatic approach centered on a validation patient cohort. Methods: Microarray- and bioinformatics-centered analyses involving our previous data as a training data set (n = 42) and a new, validation cohort (n = 30) as the test data set. Measurements and Main Results: Class prediction modeling using the training data set and the previously reported genome-wide expression signature of pediatric septic shock correctly identified 93 to 100% of septic shock patients in the test data set, depending on the class prediction algorithm and the gene selection method. Subjecting the test data set to an identical filtering strategy as that used for the training data set, demonstrated 72% concordance between the two gene lists. Subjecting the test data set to a purely statistical filtering strategy, with highly stringent correction for multiple comparisons, demonstrated less than 50% concordance with the previous gene filtering strategy. However, functional analysis of this statistics-based gene list demonstrated similar functional annotations and signaling pathways as that seen in the learning data set. In particular, we validated that pediatric septic shock is characterized by large scale repression of genes related to zinc homeostasis and lymphocyte function. Conclusions: These data demonstrate that the previously reported genome-wide expression signature of pediatric septic shock is applicable to a validation cohort of patients. Keywords: Inflammation; sepsis; innate immunity; T cells; MHC antigen; zinc
2007-12-01 | GSE9692 | GEO
Project description:SNP-ChIP is a novel method leveraging small-scale intra-species genetic polymorphisms, mainly SNPs, to allow quantitative spike-in normalization of ChIP-seq results. SNP-ChIP uses a different strain of the same organism as the spike-in material and can be applied to any organism for which genome assemblies are available for two different strains or individuals with sufficient genetic diversity. This ensures antibody cross-reactivity and thus extends the applicability of the method beyond the small number of highly conserved proteins. It also ensures complete physiological coherence between the test and the spike-in cells. In this work we develop and validate the method using test cases from budding yeast meiosis. We use strains with ~0.7% genomic sequence divergence as test strain background and the spike-in strain, respectively. Sequencing reads are mapped to a hybrid genome, with naturally occurring sequence polymorphisms allowing assignment of most reads to one of the two genomes. By targeting the yeast chromosomal protein Red1, we show that SNP-ChIP reliably identifies previously reported changes in overall protein levels, irrespective of changes in binding distribution. We also show that SNP-ChIP is robust to wide changes in sequencing depth, as well as the amount of spike-in material. SNP-ChIP allowed discovery of novel regulators of global Red1 protein accumulation and is also shown to allow quantitative analysis of the DNA-damage associated histone modification gamma-H2AX. SNP-ChIP is a robust and versatile spike-in normalization method that can be used with any target against which a ChIP-grade antibody is available and for any organisms with sufficient intra-species diversity, including most model organisms as well as human cells. Grant ID: FY16-208 Grant title: Meiotic segregation of small chromosomes Funding source: March of Dimes Grantee name: Andreas Hochwagen, New York University, New York, NY, United States
2018-11-21 | GSE115092 | GEO
Project description:Children develop rapidly during the first years of life, and understanding the different sources and levels of variation in serum proteome of young children is important when using serum proteins as markers for childhood diseases. We have performed label/free quantitative proteomics for longitudinal serum samples collected from a group of children during the first years of life.
2018-04-18 | PXD006775 | Pride
Project description:The rodent carcinogenicity test requires extremely long test term and large examination cost. Therefore, now we need to develop a short term and low cost screening method. We already developed a chemical carcinogenicity short term screening method CARCINOscreen®. This study was performed to validate this screening method. We conducted 28 days-repeated dose experiments in male F344 rats with 4 carcinogens and 2 non-carcinogens, and the gene expression profiles in liver were measureed by custom oligo microarrays.
2013-04-02 | GSE45650 | GEO
Project description:Rationale: We previously generated genome-wide expression data in children with septic shock, based on whole blood-derive RNA, having the potential to lead the field into novel areas of investigation. Objective: Herein we seek to validate our data through a bioinformatic approach centered on a validation patient cohort. Methods: Microarray- and bioinformatics-centered analyses involving our previous data as a training data set (n = 42) and a new, validation cohort (n = 30) as the test data set. Measurements and Main Results: Class prediction modeling using the training data set and the previously reported genome-wide expression signature of pediatric septic shock correctly identified 93 to 100% of septic shock patients in the test data set, depending on the class prediction algorithm and the gene selection method. Subjecting the test data set to an identical filtering strategy as that used for the training data set, demonstrated 72% concordance between the two gene lists. Subjecting the test data set to a purely statistical filtering strategy, with highly stringent correction for multiple comparisons, demonstrated less than 50% concordance with the previous gene filtering strategy. However, functional analysis of this statistics-based gene list demonstrated similar functional annotations and signaling pathways as that seen in the learning data set. In particular, we validated that pediatric septic shock is characterized by large scale repression of genes related to zinc homeostasis and lymphocyte function. Conclusions: These data demonstrate that the previously reported genome-wide expression signature of pediatric septic shock is applicable to a validation cohort of patients. Experiment Overall Design: Table 1: Clinical and demographic data for all subjects in test data set. Experiment Overall Design: Controls Septic Shock Experiment Overall Design: No. of individual subjects 15 30 Experiment Overall Design: Mean age (years) ± S.D. 3.1 ± 3.5 3.2 ± 2.9 Experiment Overall Design: Mean PRISM Score ± S.D. n/a 18.9 ± 12.3 Experiment Overall Design: Gender (Male/Female) 8/7 16/14 Experiment Overall Design: Race (no.) A.A./Black (6) A.A./Black (2) Experiment Overall Design: Asian (4) White (26) White (5) Unreported (2)
2008-06-20 | E-GEOD-9692 | biostudies-arrayexpress
Project description:Global transcriptome analyses provide an excellent basis for the identification and definition of biomarkers with high relevance in infection processes, therapeutic intervention and protective immunity. The measurement applies three different state of the art transcriptomic technologies for global expression profiling to vaccine development. Different microarray platforms in conjunct to next generation sequencing (NGS) will build the basis for comparative approaches, such as up-down classification and correlation coefficients. This measurement is based on Agilent microarrays and a clinical trial phase Ia study with M. bovis BCG vaccination, using two different tuberculin skin test (PPD negative and PPD positive) groups. • Surrogate measurement using PBMCs • 4 time points: d0 (naïve, pre-immunization) and d29, d57, d180 post m. bovis BCG immunization • Responses of PPD negative and PPD positive study groups • Group size of approximately 9 individuals European network of vaccine research and development (TRANSVAC)
2013-10-31 | GSE51059 | GEO
Project description:Immune thrombocytopenia (ITP) is an autoimmune disease where platelets are destroyed prematurely. In the majority of children the disease resolves but in some it becomes chronic. To investigate whether the two forms of the disease are similar or separate entities we performed DNA microarray analysis of T-cells from newly diagnosed children and children with chronic ITP. We found complete separation of the expression files between the two forms of the disease. Furthermore, the gene expression of several cytokines differed between the two forms of the disease. This was also reflected in plasma with increased levels of IL-16 and TWEAK and lower levels of IL-4 in newly diagnosed compared with chronic ITP. Thus, our data indicate that the two forms of the disease may be separate entities. Microarray expression analysis of mRNA in peripheral blood T-cell of Newly diagnosed ITP vs Chronic ITP
2013-08-05 | E-GEOD-46922 | biostudies-arrayexpress