Robin Coombs
Ontology highlight
ABSTRACT:
SUBMITTER: Richmond C
PROVIDER: S-EPMC1482389 | biostudies-literature | 2006 Jun
REPOSITORIES: biostudies-literature
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Project description: Not available
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Project description:Histiocytic sarcoma (HS) rarely involves extranodal sites, such as the spleen. We report a unique pediatric case of massive splenomegaly and refractory Coombs negative hemolytic anemia (CNHA) secondary to HS. The CNHA resolved completely after an emergent splenectomy. Next generation sequencing (NGS) revealed novel ASXL1, PTPN11, KIT, and TP53 mutations, unmasking a clonal heterogeneity within the same neoplasm.
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Project description:Homo-dimer formation is important for the function of many proteins. Although dimeric forms of cryptochromes (Cry) have been found by crystallography and were recently observed in vitro for European robin Cry4a, little is known about the dimerization of avian Crys and the role it could play in the mechanism of magnetic sensing in migratory birds. Here, we present a combined experimental and computational investigation of the dimerization of robin Cry4a resulting from covalent and non-covalent interactions. Experimental studies using native mass spectrometry, mass spectrometric analysis of disulfide bonds, chemical cross-linking, and photometric measurements show that disulfide-linked dimers are routinely formed, that their formation is promoted by exposure to blue light, and that the most likely cysteines are C317 and C412. Computational modeling and molecular dynamics simulations were used to generate and assess a number of possible dimer structures. The relevance of these findings to the proposed role of Cry4a in avian magnetoreception is discussed.
| S-EPMC10364083 | biostudies-literature
Project description:BackgroundWe investigated a large family with Pierre Robin sequence (PRS).Aim of the studyThis study aims to determine the genetic cause of PRS.ResultsThe reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene. In an unrelated family, we identified another BMPR1B-splicing mutation that co-segregated with PRS.ConclusionWe detected two BMPR1B mutations in two unrelated PRS families, suggesting that BMPR1B disruption is probably a cause of human PRS.MethodsGTG banding, comparative genomic hybridization, whole-genome sequencing, and Sanger sequencing were performed to identify the gene causing PRS.
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Project description:This article on the dental management of a neonate with Pierre Robin sequence describes the clinical and laboratory procedures for construction of a feeding plate due to the presence of a cleft palate. Emphasis has also been laid on a few literatures to describe medical complications associated with this condition. A 56-day-old neonate had been referred to the outpatient department with the complaint of difficulty in feeding, description, and management of which has been described in the case report.
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Project description:Socioeconomic inequalities in cities are embedded in space and result in neighborhood effects, whose harmful consequences have proved very hard to counterbalance efficiently by planning policies alone. Considering redistribution of money flows as a first step toward improved spatial equity, we study a bottom-up approach that would rely on a slight evolution of shopping mobility practices. Building on a database of anonymized card transactions in Madrid and Barcelona, we quantify the mobility effort required to reach a reference situation where commercial income is evenly shared among neighborhoods. The redirections of shopping trips preserve key properties of human mobility, including travel distances. Surprisingly, for both cities only a small fraction (∼5%) of trips need to be modified to reach equality situations, improving even other sustainability indicators. The method could be implemented in mobile applications that would assist individuals in reshaping their shopping practices, to promote the spatial redistribution of opportunities in the city.
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