1028 results for "中国疾控中心2024年12月传染病死亡病例统计数据"

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• WGS of oesophagogastric cancer

  WGS of 12 oesophagogastric cancer samples WGS or 12 matched germline data.

  Dac EGAC50000000890

• single-cell RNA-seq Case-Control study of children progressing to Type1 diabetes

  Single-cell RNA sequencing was carried out on four selected PBMC samples of Finnish children at risk of developing Type 1 diabetes and their gender age and HLA matched control children using 10X genomic platform. All four Case children were positive for multiple islet specific autoantibodies and two of them also progressed to clinical disease during the follow up whereas the control children remain negative for all autoantibodies. Age at seroconversion for Case 2, 3, 5, and 9 children is 12, 18, 24, and 18 months, respectively. Age at sampling, in months, for the pairs was as follows (Case/Control): pair 2:24/24; pair 3: 12/18; pair 5: 12/12; pair 9:24/18.

  Study EGAS00001004070

• SNP_dataset_1

  Tissue samples using Illumina HumanOmniExpress-FFPE-12 v1.0 BeadChip

  Dataset EGAD00010001179

• Employing_single_cell_sequencing_for_detection_of_mutational_signatures_reflecting_on_going_mutagenesis_

  12 single cells will be sequenced from a previously single-cell derived clone of a JSC-1 cell line. Additional 12 single cells are likely to be sequenced from a previously single-cell derived clone of a SW756 line. Both belong to CGP’s panel of approximately 1000 human cancer cell lines.

  Study EGAS00001002679

• 2018_ETO_WGS

  This study includes 12 paired samples of Korean AML-ETO paitients.12 AML-ETO tumor samples are paired with each normal(Saliva or BM derived) sequencing data.The results of this WGS study were analyzed by Mutect and GATK for ranking germline variants and cancer variants to make mutational profile matrix.

  Study EGAS00001002804

• Combining dasatinib and IFN-α in CML – immunomodulatory effects linked to treatment response and adverse events

  We pooled 100,000 cells from the 12 scRNA+TCRab-seq samples from peripheral blood from three time points (n=4, samples at 0, 3, and 12 months) to understand the landscape of immune subsets in CML during the course of dasatinib+IFN-α treatment

  Study EGAS00001005049

• WGS of oesophagogastric cancer

  Illumina short read WGS of 12 oesophagogastric cancer samples

  Dataset EGAD50000002239

• Transcriptomic signatures of CD4+ T cells from visceral leishmaniasis (VL) patients

  Bulk RNA-sequencing was performed on CD4+ T cells isolated from the blood of visceral leishmaniasis patients (n = 12) and endemic controls (EC; n = 12). CD4+ T cells were obtained by magnetic-activated cell sorting (MACS). Alterations in the transcripts of T helper (Th) cells during infection were identified.

  Study EGAS00001004152

• KRAS Mutations in Multiple Myeloma

  Fastq files for 80 Multiple Myeloma Patients and 12 cell-lines

  Dataset EGAD00001005743

• WGS data of plasma samples from CRC patients

  WGS data of plasma samples from CRC patients (N=12)

  Dataset EGAD00001006419

• Paired exome and low-coverage genome sequencing of osteosarcoma

  We perform longitudinal genome-sequencing analysis of 12 patients with metastatic or refractory osteosarcoma. The study was approved at the University Hospital Basel, following the approval of the ethical committee for mutational analysis of anonymized samples (“Ethikkommission beider Basel” ref. 274/12). All tumor samples were evaluated by an experienced bone pathologist to confirm the diagnosis.

  Study EGAS00001005199

• Targeted capture ctDNA Library CRCQV42Run025-12

  Targeted capture ctDNA Library CRCQV42Run025-12 from patient PBC0003014, saliva sample

  Dataset EGAD00001010478

• Exome sequencing Wilms tumour

  Exome sequencing of lymphocyte DNA from 12 affected individuals from six unrelated, non-syndromic Wilms tumor families.

  Dataset EGAD00001001003

• Targeted capture ctDNA Library CRCQV42Run051-12

  Targeted capture ctDNA Library CRCQV42Run051-12 from patient PBC0001516, plasma sample

  Dataset EGAD00001010806

• Pomalidomide for the Treatment of Bleeding in HHT (PATH-HHT)

  Data Access NOTE: Please refer to the "Authorized Access" section below for information about how access to the data from this accession differs from many other dbGaP accessions.Objectives: To determine efficacy (reduction in severity of epistaxis), tolerability, and improvement in quality of life of pomalidomide compared to placebo after 24 weeks of treatment.Background: This study addresses the efficacy of pomalidomide in the treatment of epistaxis in patients with Hereditary Hemorrhagic Telangiectasia (HHT) who have anemia and/or require blood transfusion or iron infusion for treatment of bleeding-induced anemia and iron deficiency. HHT (also known as Osler-Weber-Rendu disease) is an inherited bleeding disorder. Over 95% of patients develop recurrent epistaxis, which may be severe and result in chronic anemia, need for iron infusions and blood transfusions, substantial psychiatric comorbidity (including depression and post-traumatic stress disorder) and reduction in health-related quality of life (HRQoL). HHT is clinically diagnosed using the Curacao criteria, which consists of 1) spontaneous and recurrent epistaxis, 2) telangiectasias at characteristic sites, 3) visceral arteriovenous malformations (AVMs) or telangiectasias, and 4) a first degree relative with HHT (inheritance is usually autosomal dominant). Patients with three criteria are considered to have definite HHT, and those with 2 criteria probable HHT. HHT affects approximately 1 in 3,800 individuals. Significant manifestations of HHT often do not appear until the third or fourth decades, sometimes later.Participants: 144 patients from 11 clinical centers were enrolled.Design: This is a multi-center, double blind, randomized placebo-controlled trial that investigated the efficacy and safety of pomalidomide in patients with HHT and chronic epistaxis leading to iron-deficiency anemia or requiring intravenous iron infusions or blood transfusion.Screening evaluation included the Epistaxis Severity Score (ESS) with three-month recall, which reflected the patient's history of epistaxis and bleeding over the prior three months, as well as detailed review of iron infusion and red cell transfusion over the preceding six months. Eligible patients were provided a diary to record the duration of each epistaxis event that occurred during the 4 weeks prior to the baseline visit, and then returned for the baseline randomization visit, at which time patients underwent genetic testing, if this had not been previously performed, and completed an ESS with 4-week recall and quality of life assessments. Patients were randomized 2:1, stratified by study site, to either pomalidomide 4 mg/day or matching placebo during each of six 28 day cycles (24 weeks). Patients were seen every four weeks during treatment, and at a 4-week post-treatment follow-up visit to measure the ESS (with 4-week recall), laboratory assessments including iron stores and need for iron infusion, CBC, and metabolic profile. Patients were assessed for adverse events (AE) throughout the study. Treatment dosage could be reduced, or temporarily or permanently discontinued following AE-specific guidelines related to fatigue, cytopenias or other toxicities.Quality of life assessments were completed at baseline, and the 12- and 24-week visits, and the 4-week post-treatment follow-up visit using validated NIH instruments of 1) Neuro-QOL satisfaction with social roles and activities, 2) PROMIS emotional distress – depression, and 3) PROMIS fatigue, and the HHT-specific quality of life instrument developed specifically for this study. The effect of pomalidomide on duration of epistaxis was assessed via diary between weeks 8-12, 20-24 and the 4-week post-treatment period.Conclusions: Among patients with HHT, pomalidomide treatment resulted in a significant, clinically relevant reduction in epistaxis severity. No unexpected safety signals were identified (Al-Samkari et al., 2024; PMID: 39292928)

  Study phs003948

• GabonDiv_SNP_genotyping

  Genome-wide SNP genotyping data for 1,235 western Africans by Illumina HumanOmniExpress-12 array, used in the EGAS00001002078 study

  Dataset EGAD00010001209

• Targeted capture ctDNA Library CRCQV42Run033-12

  Targeted capture ctDNA Library CRCQV42Run033-12 from patient PBC0002406, buffy coat sample

  Dataset EGAD00001010551

• Targeted capture ctDNA Library CRCQV34Run011-12

  Targeted capture ctDNA Library CRCQV34Run011-12 from patient PBC0002294, plasma baseline sample

  Dataset EGAD00001010366

• Targeted capture ctDNA Library CRCQV34Run007-12

  Targeted capture ctDNA Library CRCQV34Run007-12 from patient PBC0002816, plasma baseline sample

  Dataset EGAD00001010354

• Targeted capture ctDNA Library CRCQV42Run019-12

  Targeted capture ctDNA Library CRCQV42Run019-12 from patient PBC0001295, plasma baseline sample

  Dataset EGAD00001010419

• Targeted capture ctDNA Library CRCQV42Run028-12

  Targeted capture ctDNA Library CRCQV42Run028-12 from patient PBC0004076, plasma baseline sample

  Dataset EGAD00001010502

• Targeted capture ctDNA Library CRCQV42Run029-12

  Targeted capture ctDNA Library CRCQV42Run029-12 from patient PBC0004173, plasma baseline sample

  Dataset EGAD00001010512

• Targeted capture ctDNA Library CRCQV42Run032-12

  Targeted capture ctDNA Library CRCQV42Run032-12 from patient PBC0001224, buffy coat sample

  Dataset EGAD00001010538

• Targeted capture ctDNA Library CRCQV42Run034-12

  Targeted capture ctDNA Library CRCQV42Run034-12 from patient PBC0004173, buffy coat sample

  Dataset EGAD00001010566

• Targeted capture ctDNA Library CRCQV42Run047-12

  Targeted capture ctDNA Library CRCQV42Run047-12 from patient PBC0003385, buffy coat sample

  Dataset EGAD00001010724