Outlines of economic zoölogy, by Albert M. Reese ... with 194 illustrations.

Reese, Ann

doi:10.5962/bhl.title.24426

Cited by 6 publications

(10 citation statements)

References 8 publications

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“…Our results suggest that criteria of AML-MRC do not carry prognostic value among patients with intermediate ELN risk groups. This is in line with previous reports showing no independent impact of MLD [4][5][6][7][8]. We and other previously reported that the presence of mutated of ASXL1 gene (exon 12) represents a molecular marker of AML-MRC…”

Section: Prognostic Significance Of Myelodysplasia-related Changes Acsupporting

confidence: 93%

“…1). Both were deletions: the first in exon 4 (c.331-2_331-1delAG) was predicted to abolish a consensus splicing acceptor site at the junction between intron 3 and exon 4 [4], and the second in exon 26 (c.3587delA) was predicted to result in premature termination (p.His1196ProfsStop30) due to frameshifting. Consent for genetic testing of the patient's family members was not given.…”

Section: Development Of a Clinically Significant Adamts13 Inhibitor Imentioning

confidence: 99%

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Development of a clinically significant ADAMTS13 inhibitor in a patient with hereditary thrombotic thrombocytopenic purpura

et al. 2014

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To the Editor: Hereditary thrombotic thrombocytopenic purpura (hTTP), that is, Upshaw-Schulman syndrome, results from the congenital absence of a disintegrin and metalloprotease with thrombospondin type 1 motifs, member 13 (ADAMTS13), the von Willebrand factor-cleaving protease [1,2]. The hallmarks of hTTP are repeated episodes of thrombocytopenia and microangiopathic hemolytic anemia usually responsive to plasma infusion [3]. Herein, we report the case of a plasma-treated hTTP patient who went on to develop an ADAMTS13 functional inhibitor and required therapeutic plasma exchange (TPE), not plasma infusion, for disease management.Our patient, now a 37-year-old female, was born with thrombocytopenia (platelets 49 3 10 9 /L, decreasing to 3 3 10 9 /L at 2 days of age), Coombs' test negative hemolytic anemia with schistocytes (with associated hematocrit decrease from 62 to 35% over the first 2 days of life), and hemoglobinuria. Family history was noncontributory. Since birth, the patient experienced frequent episodes of thrombocytopenia, hemolytic anemia, and hemoglobinuria requiring transfusion of numerous red blood cell and plasma components. She subsequently developed hemodialysis-dependent chronic renal insufficiency and multiple cerebrovascular events.The patient was eventually diagnosed with hTTP at age 15 years and treatment was escalated with TPE with plasma replacement every 2-3 weeks to control thrombocytopenia. However, since age 26 her TPE frequency required further intensification to once weekly for inadequately controlled thrombocytopenia by the previous treatment schedule. Pre-TPE ADAMTS13 activity was always undetectable. On three separate occasions, ADAMTS13 activity obtained immediately post-TPE was 63, 45, and 30%, with undetectable activities 1 week later. Pre-TPE ADAMTS13 functional inhibitor analysis performed on two separate occasions demonstrated 54 and 88% inhibition (1.1 and 3 BU/mL, respectively; normal <30% inhibition or 0.5 BU/mL). All activity and inhibitor testing was performed with a quantitative assay utilizing fluorescence resonance energy transfer technology (Lifecodes ATS-13 Assay, Immucor GTI Diagnostics, Waukesha, WI).ADAMTS13 gene sequencing performed on all 29 exons and 50 bases of flanking noncoding sequence revealed two novel mutations, supporting the diagnosis of hTTP (see Fig. 1). Both were deletions: the first in exon 4 (c.331-2_331-1delAG) was predicted to abolish a consensus splicing acceptor site at the junction between intron 3 and exon 4 [4], and the second in exon 26 (c.3587delA) was predicted to result in premature termination (p.His1196ProfsStop30) due to frameshifting. Consent for genetic testing of the patient's family members was not given.To our knowledge, this is the first reported case of a hTTP patient with a clinically significant ADAMTS13 inhibitor after repeated exposure to exogenous ADAMTS13. A prior report described a hTTP patient with an evanescent, low-titer ADAMTS13 inhibitor (<1.4 BU/mL), but this did not impact the treatment plan or response to ...

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Section: Prognostic Significance Of Myelodysplasia-related Changes Acsupporting

confidence: 93%

Section: Development Of a Clinically Significant Adamts13 Inhibitor Imentioning

confidence: 99%

Development of a clinically significant ADAMTS13 inhibitor in a patient with hereditary thrombotic thrombocytopenic purpura

et al. 2014

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“…Examples of apparently myelinated cell bodies have been seen in the brain stem of a rat (52) and in tissue cultures of rat cerebellum (19), midbrain (19), and spinal cord (3). Redundant myelin sheaths have likewise been noted in the central nervous system of adult (17,33) and developing (23,32) mammals and in cultured specimens (51) as well. The phenomenon of secondary myelination is probably a general one and, although not extensive enough to have much effect on conduction velocity, i t may have significant theoretical implications, several of which will be considered here.…”

Section: Discussionmentioning

confidence: 90%

Redundant Myelin Sheaths and Other Ultrastructural Features of the Toad Cerebellum

Rosenbluth

1966

The Journal of Cell Biology

138

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Some of the myelin sheaths in the cerebellum of normal adult toads exhibit extensive evaginations of their full thickness. These redundant flaps of myelin are collapsed; i.e., they contain no axon and have no lumen. They extend away from the parent axonal myelin sheaths and tend to enfold other myelinated fibers or granule cell perikarya, producing bizarre configurations of myelin and what appear to be partially or completely myelinated cell bodies. In some instances, only the redundant flap of myelin appears in the plane of section, and its attachment to an axonal myelin sheath in another plane is only inferred. Single lamellae of myelin also tend to invest cerebellar granule cells and other processes, and these too appear to fold on themselves producing two-or four-layered segments. It is suggested that there are two phases of myelinogenesis: an initial "wrapping" phase, followed by a prolonged second phase during which internodes of myelin increase in both length and girth by a process other than wrapping, and that the occurrence of redundant myelin sheaths may reflect overgrowth of myelin during the second phase. Observations on the general organization of the toad cerebellum and on the ultrastructural cytology of its layers are also presented.

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“…Genomic sequence data for RXRL were from GenBank accession number AF065396 and base numbers refer to positions within this sequence. To identify additional splice donor/acceptor and promoter sites within the RXRL genomic sequence and to con¢rm alternative splicing sites, MatInspector and the neural network promoter prediction program by Martin Reese [16] were used.…”

Section: Discussionmentioning

confidence: 99%

RXRβ isoforms in neuroblastoma cells and evidence for a novel 3′‐end transcript

2001

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RXRL L is predominantly involved in retinoid responses in neuroblastoma cells, in particular the N-type SH SY 5Y cells and the S-type SH S EP cells, both derivatives of a mixed phenotype neuroblastoma cell line. The aim of this study was to identify RXRL L isoforms expressed in neuroblastoma cells and to characterise a putative novel RXRL L transcript. RXRL L1 and RXRL L2 were expressed in these neuroblastoma cells. An isoform with an insertion into the ligand binding domain, RXRL L SLSR (referred to in previous studies as RXRL L3), was expressed at a similar level to RXRL L. A novel RXRL L transcript was identified by RNase protection assays and was at least as abundant as the expected RXRL L transcript and expressed in other cell types. Evidence suggests that this novel transcript was transcribed from an internal promoter between exons 5 and 6, contained a retained intron (intron 6) and was alternatively spliced with and without the SLSR insertion. These data show that the pattern of RXRL L expression is complex. The relative abundance of the novel RXRL L transcript suggests that it may be an important aspect of RXRL L function or regulation in a range of cell types. ß

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Outlines of economic zoölogy, by Albert M. Reese ... with 194 illustrations.

Cited by 6 publications

References 8 publications

Development of a clinically significant ADAMTS13 inhibitor in a patient with hereditary thrombotic thrombocytopenic purpura

Development of a clinically significant ADAMTS13 inhibitor in a patient with hereditary thrombotic thrombocytopenic purpura

Redundant Myelin Sheaths and Other Ultrastructural Features of the Toad Cerebellum

RXRβ isoforms in neuroblastoma cells and evidence for a novel 3′‐end transcript

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