Search results for "normality"
showing 10 items of 123 documents
Molecular Characterization of Relapsed Core-Binding Factor (CBF) Acute Myeloid Leukemia (AML)
2015
Abstract Background: CBF-AML is defined by recurrent genetic abnormalities which encompass t(8;21)(q22;q22), inv(16)(p13.1q22) or less frequently t(16;16)(p13.1;q22). Most frequent secondary chromosome aberrations in t(8;21) AML are del(9q) or loss of a sex chromosome, and in inv(16)/t(16;16) AML trisomy 22 or trisomy 8. At the molecular level mutations involving KIT, FLT3, or NRAS were identified as recurrent lesions in CBF-AML. However, the underlying genetic alterations which might trigger relapse in CBF-AML are not well delineated. Thus, the aim of our study was to characterize the clonal architecture of relapsed CBF-AML. Methods: We performed mutational profiling (KIT, FLT3-ITD, FLT3-T…
Elliptically Symmetric Distributions: A Review of Achieved Results and Open Issues
2005
The spherically and elliptically symmetrical distributions are used in different statistical areas for different purposes such as the description of multivariate data, in order to find alternatives to the normal distribution in multinormality tests and in the creation of statistical models in which the usual assumption of normality is not realistic. Some achieved results, open issues and some proposals for their use in applications, especially in the financial area, are here presented.
Primitive characters of subgroups ofM-groups
1995
One of the hardest areas in the Character Theory of Solvable Groups continues to be the monomial groups. A finite group is said to be an M-group (or monomial) if all of its irreducible characters are monomial, that is to say, induced from linear characters. Two are still the main problems on M-groups: are Hall subgroups of M groups monomial? Under certain oddness hypothesis, are normal subgroups of M-groups monomial? In both cases there is evidence that this could be the case: the primitive characters of the subgroups in question are the linear characters. This is the best result up to date ([4], [6]). Recently, some idea appears to be taking form. In [14], T. Okuyama proved that if G is an…
Normalities and Commutators
2010
We first compare several algebraic notions of normality, from a categorical viewpoint. Then we introduce an intrinsic description of Higgins' commutator for ideal-determined categories, and we define a new notion of normality in terms of this commutator. Our main result is to extend to any semi-abelian category the following well-known characterization of normal subgroups: a subobject K is normal in A if. and only if, {[A, K] <= K. (C) 2010 Elsevier Inc. All rights reserved.}
A Non-Normal Incidence Pumped Ni-Like Zr XRL for Spectroscopy of Li-Like Heavy Ions at GSI/FAIR
2008
One of the unique features of the PHELIX laser installation is the combination of the ultra-high intensity laser with the heavy-ion accelerator facility at GSI and its planned extension FAIR. Due to this combination, PHELIX will allow novel investigations in the fields of plasma physics, atomic physics, nuclear physics, and accelerator studies. An important issue within the scientific program is the generation of high quality x-ray laser beams for x-ray laser spectroscopy of highly-charged ions. The long range perspective is the study of nuclear properties of radioactive isotopes within the FAIR [1] project. A novel single mirror focusing scheme for the TCE XRL has been successfully impleme…
Triple Negative Myelofibrosis and Myelodysplastic Syndrome with Fibrosis: Clinico-Biological Characterization and Correlation with Gene Mutations
2018
Abstract Introduction: Triple negative primary myelofibrosis (TN-PMF) and myelodysplastic syndromes with fibrosis (F-MDS) are rare entities, often difficult to distinguish each other. Currently, no specific molecular markers allowing a precise differential diagnosis are available. In this sense, next generation techniques (NGS) might be useful to distinguish between both entities and to refine prognosis. Methods: Thirty-nine patients with TN-PMF (n=16) or F-MDS (n=23) were analyzed, Targeted NGS was performed in 28 cases (10 TN-PMF and 18 F-MDS) using the Sophia Genetics Myeloid Tumor Solution Panel including the following genes: ABL1, ASXL1, BRAF, CALR, CBL,CEBPA, CSF3R,CSNK1A1,DNMT3A, ETV…
Imaging in Prune Belly Syndrome and Other Syndromes Affecting the Urogenital Tract
2018
The absence of the abdominal musculature, urinary tract dilatation, and bilateral undescended testis is known as prune belly syndrome (PBS) (Eagle and Barrett 1950; Greskovich and Nyberg 1988; Williams 1982). The classical syndrome is also known as triad syndrome, Eagle-Barrett syndrome, or abdominal muscular deficiency syndrome. There is a broad spectrum of malformations with severe dilatation of the urinary tract as a consequence of aplasia of the musculature. The pathogenetic mechanism is different from that of dilatation as a consequence of supra- or infravesical obstruction. Some patients with prune belly syndrome have a real obstruction, such as urethral aplasia with oligohydramnios s…
Patient with Kabuki syndrome and acute leukemia
2003
Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. There is cumulative evidence of an immunodeficiency in Kabuki patients. We report a 2-year-old girl with typical Kabuki syndrome, who developed acute lymphocytic leukemia. The patient showed low levels of immunoglobulins G and A and a history of recurrent infections, that might indicate an immunodeficiency leading to an increased susceptibility to cancer. The girl was treated according to BFM protocols adapted to the patient's impaired cardiac situation and severe underweight. She achieved continual complete remission. Classical and molecular cytogenetic analyzes did not d…
Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.
1995
Congenital absence of both lungs is an extremely rare malformation in humans and is thought to occur sporadically. We report the second case of congenital absence of both lungs in the offspring of one woman. In neither case, one female baby (born at term) and one aborted female fetus (21 weeks of gestation), were anomalies or malformations of other organ systems observed. The karyotype of the aborted fetus was 46,XX. To our knowledge, this is the first report describing bilateral pulmonary agenesis in two offspring of one mother. The repetition of virtually the same isolated abnormality with no other malformations supports the hypothesis that it could be caused by a genetic disorder. Other …
It is time to abandon “Expected bladder capacity.” Systematic review and new models for children's normal maximum voided volumes
2013
Background There is an agreement to use simple formulae (expected bladder capacity and other age based linear formulae) as bladder capacity benchmark. But real normal child's bladder capacity is unknown. Aims To offer a systematic review of children's normal bladder capacity, to measure children's normal maximum voided volumes (MVVs), to construct models of MVVs and to compare them with the usual formulae. Methods Computerized, manual and grey literature were reviewed until February 2013. Epidemiological, observational, transversal, multicenter study. A consecutive sample of healthy children aged 5–14 years, attending Primary Care centres with no urologic abnormality were selected. Particip…