16766 results for "sec+and+unspecified+malignant+neoplasm"

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• Safety and Efficacy of Intravenous Norepinephrine for Orthostatic Hypotension

  Patients with chronic autonomic failure (CAF) often have disabling orthostatic hypotension (OH). OH in CAF patients is often associated with supine hypertension (hypertension while lying down), which can be severe. Drugs to treat OH worsen supine hypertension. Therefore, the combination of OH with supine hypertension poses a difficult therapeutic challenge. This protocol is a first step toward development of a way to maintain blood pressure during standing without worsening hypertension while lying down. The research question is will a drug (norepinephrine) given intravenously (IV) prevent blood pressure from falling in patients with orthostatic hypotension. This is a placebo controlled, blinded study of 15 patients with neurogenic orthostatic hypotension. The study consists of two experimental days per participant. On a day before the day of norepinephrine (NE) infusion, the patient undergoes head-up tilting while blood pressure is monitored. Tilt angles are increased until the patient has orthostatic symptoms, systolic pressure decreases to less than 90 mm Hg, or systolic pressure decreases by more than 80 mm Hg. On the day of NE infusion patients, receive NE and placebo with the sequence of treatments randomized. If the patient has severe supine hypertension (more than 200 mm Hg systolic), then NE is infused beginning with the patient at whatever tilt angle is required for baseline pressure to be less than 200 mm Hg. NE is infused at doses titrated to keep directly recorded systolic blood pressure at or above the baseline value during exposure to higher tilt angles. When placebo is given, angles of tilt are increased until the patient has orthostatic symptoms, systolic pressure decreases to less than 90 mm Hg, or systolic pressure decreases by more than 80 mm Hg.

  Study phs001769

• Autosomal dominant macular dystrophy sequencing

  Inherited retinal dystrophies (IRD) are a group of rare diseases that cause a large disability rate. THRB (MIM*190160), located on 3p24.2, encodes the thyroid hormone receptor beta (TRβ). THRB mutations may be associated with human cone disorders, as this gene regulates the expression of red cone opsins. The aim of this work is to refine the ophthalmologic phenotype and describe a novel variant in THRB associated to IRD, thus confirming the role of this gene in tiopathogenesis of IRD.

  Dataset EGAD50000001255

• Molecular profile of IMFT for the identification of potential druggable targets and biomarkers predicting crizotinib response.

  The clinical phase II trial EORTC 90101 “CREATE” showed high anti-tumor activity of crizotinib, an ALK/ROS1 inhibitor, in IMFT patients. However, results suggested that other molecular targets in addition to ALK/ROS1 might also contribute to the sensitivity of this kinase inhibitor. We therefore characterized molecular profile of IMFT to identify alterations which could play a role in the response to crizotinib.

  Study EGAS00001005419

• The natural history of clonal haematopoiesis: time-series (phase 1-5) targeted

  Deep targeted sequencing of 56 genes associated with clonal haematopoiesis and haematological malignancy in peripheral blood-derived DNA from 385 older adults, each sampled 2-5 times over ~13 years.

  Dataset EGAD00001007682

• Genomics characterization of BRAF-V600E colorectal cancer patients treated with anti-BRAF/EGFR

  WES files (fastQ) from 19 germline DNA, 22 tumor DNA, 5 patient-derived xenograft (PDX) DNA, and 9 plasma cfDNA) samples from 28 CRC-BRAF-mutated patients collected at baseline to anti-BRAF/EGFR therapies.

  Dataset EGAD00001008755

• Pre-neoplastic somatic mutations including MYD88L265P in lymphoplasmacytic lymphoma

  In this study, we sequenced multiple stages of the B-lineage in elderly individuals and patients with lymphoplasmacytic lymphoma to study whether mutations are accumulated in normal-cell counterparts prior to lymphoma

  Dataset EGAD00001008196

• UCSF WCDT WGS/WGBS mCRPC

  This dataset contains 29 paired FASTQ files from whole-genome bisulfite sequencing (WGBS) assay performed on mCRPC tumors. Sequencing was performed using 150nt paired reads generated by a Novaseq 6000 instrument. It also contains whole-genome sequencing bam files aligned to hg38 using BWA from 36 patients, with tumor and matched tumor-adjacent normal samples. Sequencing was generated using HiSeq X Ten.

  Dataset EGAD00001009505

• Dataset for HCPlus_WGS

  WES/WGS sequencing data of 337 chromothriptic tumor and control runs, which were uploaded to umbrella studies. The sequencing was always paired

  Dataset EGAD00001009274

• Liver CD14+CD8+ T cells scRNAseq dataset

  Sorted single CD8+T cells expressing CD14 from human liver for SMARTSeq2. Livers processed: Kucykowicz et al STAR Prot 2022:pubmed.ncbi.nlm.nih.gov/35516846/ Published: Pallett et al Nature 2022 Tissue CD14+CD8+T-cells are reprogrammed by myeloid cells and modulated by LPS A modified SMART-seq2 protocol was performed on the single flow cytometry sorted-cells as previously described58. After cDNA generation, libraries were prepared (384 cells per library) using the Illumina Nextera XT kit (Illumina). Each library was sequenced to achieve a minimum depth of 1-2 million raw reads per cell using an Illumina HiSeq 4000 using v. 4 SBS chemistry to generate 75-bp paired-end reads.

  Dataset EGAD00001009831

• Sequence data from stage I of the CCTG BR.36 ctDNA-directed, multi-center phase II study of molecular response adaptive immunotherapy in non-small cell lung cancer

  The dataset for the study "Early ctDNA molecular response captures therapeutic response in the first stage of CCTG BR.36 ctDNA-directed, multi-center phase II study of molecular response adaptive immunotherapy in non-small cell lung cancer", includes 134 bam files from hybrid capture targeted error-correction next-generation sequencing (PGDx Elio plasma resolve) from plasma cell-free DNA and matched white blood cell DNA from 35 individuals with non-small cell lung cancer on the BR.36 trial, alongside 11 bam files from targeted next generation sequencing (PGDx Elio tissue complete) of tumor DNA from 11 individuals with non-small cell lung cancer on the BR.36 trial.

  Dataset EGAD00001011359