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Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP)

ABSTRACT: The Post-Transfusion Pupura (PTP) syndrome although rare has severe side effects for 5-10 cases per annum in the UK as a result of transfusion. High quality DNA has been isolated from either whole blood or from cryopreserved mononuclear cells of 4 patients in order to study our postulation that the condition is caused by a loss-of-function mutation in a specific gene.

PROVIDER: EGAS00001000053 | EGA |

REPOSITORIES: EGA

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scRNA-seq of PBMC cells sorted into CD3+/CD19+ and CD3-CD19- buckets from Omenn syndrome patients and healthy controls

Project description:In this study, we sought to extend knowledge of lymphocyte development by studying patients with classical Omenn syndrome or T-B- SCID. to gain further insight into pathomechanism, we undertook single cell studies of cryopreserved peripheral blood mononuclear cells from patients with Omenn syndrome associated with either the NUDCD3 variant (3 patients/3 samples), or pathogenic defects of RAG1 (6 patients/6 samples) or RAG2 (2 patients/2samples), and healthy controls (2 samples) for comparison.

2024-06-06 | E-MTAB-12283 | biostudies-arrayexpress

Pes anserine syndrome in post knee arthroplasty. A rare case report.

Project description:Pes anserine syndrome is a cause of inferomedial knee pain. It occurs in patients with diabetes mellitus, osteoarthritis, rheumatoid arthritis and in overweight patients. It is a challenge to identify the causes of knee pain following knee replacement surgery. We present a case report of pes anserine syndrome in a 79-year-old female who had undergone knee arthroplasty 13 years prior. She was pain free until one year ago when her knee pain resurfaced without any symptoms of infection or history of trauma. She was successfully treated with a combination of stretching exercise and steroid local steroid injection. We want to highlight that such common condition as pes anserine syndrome, could occur in total knee arthroplasty, and should be considered as one of the possible diagnosis.

| S-EPMC6985012 | biostudies-literature

Bulk RNA-seq of human synovial fluid CD8 T cells sorted by Granzyme B vs Granzyme K expression

Project description:Cryopreserved synovial fluid mononuclear cells from three patients with seropositive rheumatoid arthritis were thawed and stained for surface antibodies, then fixed and stained for intracellular granzyme K and granzyme B. CD8 T cells with the following expression patterns were then isolated by FACS.

2022-05-08 | GSE202365 | GEO

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

Project description:BACKGROUND:Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS:We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ?20 Kb, contained ?10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database. RESULTS:We identified 28 CNVs in 17 cases; several encompassed genes important for right heart development. One case had a 2p16-2p23 duplication spanning LBH, a limb and heart development transcription factor. Lbh mis-expression results in right ventricular hypoplasia and pulmonary valve defects. This duplication also encompassed SOS1, a factor associated with pulmonary valve stenosis in Noonan syndrome. Sos1-/- mice display thin and poorly trabeculated ventricles. In another case, we identified a 1.5 Mb deletion associated with Williams-Beuren syndrome, a disorder that includes valvular malformations. A third case had a 24 Kb deletion upstream of the TGF? ligand ITGB8. Embryos genetically null for Itgb8, and its intracellular interactant Band 4.1B, display lethal cardiac phenotypes. CONCLUSION:To our knowledge, this is the first study of CNVs in HRHS. We identified several rare CNVs that overlap genes related to right ventricular wall and valve development, suggesting that genetics plays a role in HRHS and providing clues for further investigation. Birth Defects Research 109:16-26, 2017. © 2016 Wiley Periodicals, Inc.

| S-EPMC5388571 | biostudies-literature

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

Project description:We performed single-cell RNA sequencing (scRNASeq) on cryopreserved peripheral blood mononuclear cells (PBMCs) of healthy controls and OTULIN haploinsufficient patients in order to clarify the perturbation, if any, of cellular phenotypes in various leukocyte subsets in vivo at basal state attributable to OTULIN haploinsufficiency.

2023-04-01 | GSE199445 | GEO

Post-esophagectomy Symptomatic Dunbar Syndrome: A rare diagnosis of abdominal pain after surgery.

Project description:IntroductionDunbar syndrome is a rare anatomical abnormality characterized by the extrinsic compression of the celiac trunk by the median arcuate ligament (MAL). Though it is rarely misdiagnosed, the clinical diagnosis may be difficult, especially after complex visceral surgery such as esophagectomy.Presentation of caseA 62-year-old male patient with a squamous cell carcinoma of the distal esophagus, placed under trimodal treatment (chemotherapy, radiotherapy followed by hybrid minimal invasive 2-field esophagectomy) presented with abdominal pain refractory to analgesics, anti-spasmodic, opioids, and neuronal celiac plexus ablation in the late post-operative period. He was diagnosed with extrinsic celiac trunk compression based on abdominal angiotomography findings. Retrospectively, similar images were found in conventional abdominal tomography at pre-operative staging, but this time, the patient had only dysphagia. After surgical treatment of MAL, the patient had total relief of pain and symptoms.DiscussionAbdominal pain after complex surgical procedures is very frequent and its investigation is mandatory, even more after refractory clinical management. Dunbar syndrome is related to ambiguous abdominal pain. It is uncommon and its diagnosis with angiotomography is accessible.ConclusionVascular disorders should be investigated in cases of abdominal pain after complex surgical procedures.

| S-EPMC7090102 | biostudies-literature

Genome-wide analysis of the effect of long-term cryopreservation on peripheral blood mononuclear cells

Project description:Analysis of effect of long-term cryopreservation on peripheral blood mononuclear cells at gene expression level. The hypothesis tested in the present study was that long-term cryopreservation has an influence on the transcriptome profile of peripheral blood mononuclear cells. Results indicated remarkable changes in expression patterns upon cryopreservation of PBMCs, with decreasing signal intensities over time. Total RNA obtained from isolated peripheral blood mononuclear cells of melanoma patients cryopreserved in liqiud nitrogen from 20 to 60 months.

2011-07-21 | E-GEOD-24755 | biostudies-arrayexpress

Longitudinal transcriptome profiling of post-treatment Lyme disease syndrome

Project description:Most Lyme disease patients treated with appropriate antibiotics recover rapidly and completely, but a minority of patients develop persistent symptoms correlating with disseminated disease, a greater severity of illness at presentation, and delayed antibiotic therapy. When lingering or recurrent symptoms are associated with a functional decline and persist for greater than 6 months, patients are considered to meet clinical criteria for post-treatment Lyme disease syndrome (PTLDS), although the exact molecular mechanisms underlying this condition remain unknown. We performed longitudinal whole transcriptome sequencing of PTLDS patients' immune cells. No immune mechanism specific to PTLDS were uncovered to date.

2019-02-15 | GSE77929 | GEO

B-cell chronic lymphocytic leukemia side population cells

Project description:Analysis of Hoechst dye 33342-effluxing side population (SP) cells from B-CLL peripheral blood mononuclear cells.

2011-09-27 | GSE30171 | GEO

Genome-wide analysis of the effect of cryopreservation on peripheral blood mononuclear cells

Project description:Analysis of cryopreservation effects on peripheral blood mononuclear cells at gene expression level. The hypothesis tested in the present study was that cryopreservation has an influence on the transcriptome profile of peripheral blood mononuclear cells. Results indicated remarkable changes in expression patterns upon cryopreservation of PBMCs, with a strong loss of signal intensities to background levels for several transcripts. Total RNA obtained from isolated peripheral blood mononuclear cells of healthy human subjects eihter cryopreserved in liqiud nitrogen (frozen) or direclty lysed in Trizol after isolation (fresh).

2011-07-21 | E-GEOD-24753 | biostudies-arrayexpress

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