Clinical Case - One-year dog
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ABSTRACT:
PROVIDER: PRJEB60967 | ENA |
REPOSITORIES: ENA
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Project description:Due to difficulties inherent in designating conservation units for effective species management and conservation, the use of multiple complementary sources of information is required to identify and assess the designation of conservation units based on the degree of variation among populations within a species. In this study, we combined estimates of microsatellite and transcriptomic variation to assess the population structure and potential for adaptive variation of threatened Atlantic salmon, Salmo salar, among rivers in the Bay of Fundy. In general, population structure identified by genetic differentiation was consistent with the patterns of variation in gene expression. Both data sets provided clear indication of strong regional differentiation between rivers located within the inner Bay of Fundy relative to rivers located within the outer Bay of Fundy or the Southern Uplands region. There was also support for more refined population structure; there was some differentiation in both microsatellite and gene expression patterns between salmon from rivers in the two regions of the inner Bay of Fundy: Chignecto Bay and Minas Basin. Consistent patterns apparent in the genetic and transcriptomic dataset indicate that Atlantic salmon populations from the inner and outer Bay of Fundy reflect unique genetic lineages, with some evidence of unique genetic legacies between regions of the inner Bay of Fundy, and even between individual rivers within a region. Consistency of the microarray data across two years helps to validate the use of this technique as a useful tool in assessment of variation among wild populations for species conservation.
2009-11-25 | GSE19111 | GEO
Project description:Due to difficulties inherent in designating conservation units for effective species management and conservation, the use of multiple complementary sources of information is required to identify and assess the designation of conservation units based on the degree of variation among populations within a species. In this study, we combined estimates of microsatellite and transcriptomic variation to assess the population structure and potential for adaptive variation of threatened Atlantic salmon, Salmo salar, among rivers in the Bay of Fundy. In general, population structure identified by genetic differentiation was consistent with the patterns of variation in gene expression. Both data sets provided clear indication of strong regional differentiation between rivers located within the inner Bay of Fundy relative to rivers located within the outer Bay of Fundy or the Southern Uplands region. There was also support for more refined population structure; there was some differentiation in both microsatellite and gene expression patterns between salmon from rivers in the two regions of the inner Bay of Fundy: Chignecto Bay and Minas Basin. Consistent patterns apparent in the genetic and transcriptomic dataset indicate that Atlantic salmon populations from the inner and outer Bay of Fundy reflect unique genetic lineages, with some evidence of unique genetic legacies between regions of the inner Bay of Fundy, and even between individual rivers within a region. Consistency of the microarray data across two years helps to validate the use of this technique as a useful tool in assessment of variation among wild populations for species conservation. Atlantic salmon samples used in this analysis were collected from Mactaquac and Coldbrook Biodiversity Centres on the east coast of Canada. In year one, eight individuals were hybridized per strain (five strains; 40 individuals in total). This design incorporated dye-swap replicates in which two slides were hybridized with the same pair of individuals, but the dyes were swapped for one of the slides. Therefore, in year one a total of 40 slides were used. Because of the large number of strains assessed in year two (12), dyes were balanced across slides to maximize biological replication. Six individuals were hybridized per strain; three of these were labelled with Cy3, and three were labelled with Cy5 (for a total of 36 arrays in year two).
2010-05-19 | E-GEOD-19111 | biostudies-arrayexpress
Project description:Context: We present a case of a young adult with GCK mutation who had neonatal hypoglycaemia, re-emerging with hypoglycaemia later in life. Mechanistic insight is gained from detailed clinical, cellular and genomic analysis. Conclusion: This case highlights the variable phenotype of GCK mutations. In depth molecular analyses in the islets has revealed possible mechanisms for nesidioblastosis and insulin hypersecretion.
2022-03-12 | GSE193693 | GEO
Project description:The comprehensive DNA methylation status of gastric cancer cells obtained from an advanced Epstein-Barr virus-associated gastric cancer case, in which complete response to S-1 plus cisplatin chemotherapy was achieved, was analyzed with DNA methylation microarray (Illumina Infinium MethylationEPIC BeadChip). DNA was extracted from metastatic lesion (lymph node).
2019-06-08 | GSE132406 | GEO
Project description:Background: Extraskeletal osteosarcoma (ESOS) is a rare, aggressive mesenchymal tumor with limited therapeutic options and a poor prognosis due to frequent metastases. Identifying targetable genetic alterations could improve treatment outcomes. The objective is to report the first worldwide case of ESOS harboring an ETV6::NTRK3 fusion and describe the clinical response to larotrectinib, a selective TRK inhibitor. Methods: Case report of a 74-year-old man with a rapidly enlarging, inoperable neck tumor measuring 7.9 x 7.1 x 6.6 cm. The case underwent histopathological, immunohistochemical, and molecular analyses, including targeted RNA sequencing using the Archer Fusion Plex Pan Solid Tumor v2 panel and DNA-based targeted analysis with the Ion Torrent Oncomine Comprehensive Assay Plus. The clinical course was monitored over an 8-month treatment period. Results: Molecular analysis revealed an actionable, in ESOS previously not described, ETV6::NTRK3 fusion. Treatment with larotrectinib (100 mg twice daily) led to a rapid clinical response within 3 weeks. MRI demonstrated partial remission after 2 months (4.7 x 3.9 x 2.8 cm), with further tumor shrinkage at 8 months (4.4 x 3.7 x 2.4 cm). Despite complications, including urothelial carcinoma recurrence requiring chemotherapy and surgery, larotrectinib was resumed with dose adjustments. No significant adverse effects related to TRK inhibition were observed. Conclusions: This case represents the first reported instance of ESOS with an NTRK fusion. The rapid and sustained response to larotrectinib highlights the potential of precision medicine in managing rare and aggressive tumors, emphasizing the importance of molecular profiling to identify actionable targets.
2025-12-04 | GSE308605 | GEO
Project description:A 12,000-Year-Old Case of NPR2-Related Acromesomelic Dysplasia
| PRJEB104169 | ENA
Project description:Background: Extraskeletal osteosarcoma (ESOS) is a rare, aggressive mesenchymal tumor with limited therapeutic options and a poor prognosis due to frequent metastases. Identifying targetable genetic alterations could improve treatment outcomes. The objective is to report the first worldwide case of ESOS harboring an ETV6::NTRK3 fusion and describe the clinical response to larotrectinib, a selective TRK inhibitor. Methods: Case report of a 74-year-old man with a rapidly enlarging, inoperable neck tumor measuring 7.9 x 7.1 x 6.6 cm. The case underwent histopathological, immunohistochemical, and molecular analyses, including targeted RNA sequencing using the Archer Fusion Plex Pan Solid Tumor v2 panel and DNA-based targeted analysis with the Ion Torrent Oncomine Comprehensive Assay Plus. The clinical course was monitored over an 8-month treatment period. Results: Molecular analysis revealed an actionable, in ESOS previously not described, ETV6::NTRK3 fusion. Treatment with larotrectinib (100 mg twice daily) led to a rapid clinical response within 3 weeks. MRI demonstrated partial remission after 2 months (4.7 x 3.9 x 2.8 cm), with further tumor shrinkage at 8 months (4.4 x 3.7 x 2.4 cm). Despite complications, including urothelial carcinoma recurrence requiring chemotherapy and surgery, larotrectinib was resumed with dose adjustments. No significant adverse effects related to TRK inhibition were observed. Conclusions: This case represents the first reported instance of ESOS with an NTRK fusion. The rapid and sustained response to larotrectinib highlights the potential of precision medicine in managing rare and aggressive tumors, emphasizing the importance of molecular profiling to identify actionable targets.
2025-12-04 | GSE308604 | GEO
Project description:The purpose of this study was to improve prediction of patients at high-risk for metastatic disease utilizing a nested case-control design that uniquely enables enrichment for relevant phenotypes. We identified all women diagnosed with primary breast cancer from January 1, 1997, to December 31, 2005, in the Stockholm health care region. Patients developing distant metastatic disease (cases) were selected and controls (free from distant disease) were randomly matched by adjuvant therapy, age and calendar period at diagnosis. The nested case-control study included 768 study subjects with clinical information and gene expression arrays (Human Cancer G110). Study subjects were randomly and equally divided into training set (discovery) or testing (validation) set. Metastatic onset prediction was then compared including either clinical variables only or combining clinical and genetic information. Differentially expressed genes and pathways between cases and controls included a wide-spectrum of well known as well as candidate regulators of the metastatic cascade. The nested case-control study included 768 study subjects corresponding to 623 primary tumor samples. Details concerning case-control status are given in the samples section. Each case and its' matching controls form risk sets, indicated by the setnr variable.
2014-11-03 | E-GEOD-48091 | biostudies-arrayexpress