Search results for "BN"

Search for an excess of events with an identical flavour lepton pair and significant missing transverse momentum in root s=7 TeV proton-proton collis…

2011

Results are presented of a search for supersymmetric particles decaying into final states with significant missing transverse momentum and exactly two identical flavour leptons (e or mu) of opposite charge in sqrt{s}=7 TeV collisions at the Large Hadron Collider. This channel is particularly sensitive to supersymmetric particle cascade decays producing flavour correlated lepton pairs. Flavour uncorrelated backgrounds are subtracted using a sample of opposite flavour lepton pair events. Observation of an excess beyond Standard Model expectations following this subtraction procedure would offer one of the best routes to measuring the masses of supersymmetric particles. In a data sample corres…

Study of W Boson Production in Association with Beauty and Charm

2015

The associated production of a W boson with a jet originating from either a light parton or heavy-flavor quark is studied in the forward region using proton-proton collisions. The analysis uses data corresponding to integrated luminosities of 1.0 and 2.0  fb[superscript -1] collected with the LHCb detector at center-of-mass energies of 7 and 8 TeV, respectively. The W bosons are reconstructed using the W → μν decay and muons with a transverse momentum, p[subscript T], larger than 20 GeV in the pseudorapidity range 2.0 20  GeV and 2.2 20  GeV. The fraction of W + jet events that originate from beauty and charm quarks is measured, along with the charge asymmetries of the W + b and W + c produ…

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…

Multiple congenital contractures (Congenital multiple arthrogryposis)

2002

Arthrogryposis, is the occurrence of joint contractures of variable etiology that start prenatally. Arthrogryposis may result from neurologic deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, [figure: see text] or fetal crowding. Arthrogryposis may result from no apparent hereditary causes (neuropathic, for example) or may be the result of hereditary factors (myopathic form, for example). Ultrasound diagnosis depends on observation of scant or absent motion of fetal extremities. Prognosis depends on the specific etiology of the contractures.

Clinical, dermoscopic, and histologic aspects of two cases of cutaneous focal mucinosis*

2019

Abstract: Cutaneous mucinoses are a complex and diverse group of connective tissue disorders characterized by the accumulation of mucin and/or glycosaminoglycan in the skin and adnexa. Cutaneous focal mucinosis appears as a solitary, asymptomatic, skin-colored to white papule, nodule, or plaque located anywhere on the body or in the oral cavity. It presents mainly in adults and is characterized on histopathology by mucin throughout the upper and mid dermis. We describe the dermoscopy of two cases of cutaneous focal mucinosis. Both lesions presented a nonspecific homogenous whitish pattern; the first case also exhibited a sharply demarcated yellow border.

Anatomical Network Comparison of Human Upper and Lower, Newborn and Adult, and Normal and Abnormal Limbs, with Notes on Development, Pathology and Li…

2015

How do the various anatomical parts (modules) of the animal body evolve into very different integrated forms (integration) yet still function properly without decreasing the individual’s survival? This long-standing question remains unanswered for multiple reasons, including lack of consensus about conceptual definitions and approaches, as well as a reasonable bias toward the study of hard tissues over soft tissues. A major difficulty concerns the non-trivial technical hurdles of addressing this problem, specifically the lack of quantitative tools to quantify and compare variation across multiple disparate anatomical parts and tissue types. In this paper we apply for the first time a powerf…

2019

Objective: Severe malnutrition in patients with anorexia nervosa (AN) as well as possible trait-related aberrations lead to pronounced structural brain changes whose reversibility after recovery is currently unclear. Previous diffusion tensor imaging (DTI) studies investigating white matter (WM) microstructure alterations in AN are inconsistent. Methods: In this so far largest DTI study in adults, we investigated 33 AN patients, 20 recovered (REC), and 33 healthy women. DTI data were processed using the "DTI and Fiber tools," and the Computational Anatomy Toolbox. WM integrity, both in terms of fractional anisotropy (FA) and mean diffusivity (MD), was assessed. Results: We found a significa…

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

2014

Niemann-Pick type C disease is a rare disorder caused by impaired intracellular lipid transport due to mutations in either the NPC1 or the NPC2 gene. Ninety-five % of NPC patients show mutations in the NPC1 gene. A much smaller number of patients suffer from NPC2 disease and present respiratory failure as one of the most frequent symptoms. Several plasma oxysterols are highly elevated in NPC1 and can be used as a biomarker in the diagnosis of NPC1.Plasma cholestane-3β,5α,6β-triol was evaluated as biomarker for NPC2 by GC/MS and LC-MS/MS analysis. The diagnosis was confirmed by Sanger sequencing and filipin staining.We report three NPC2 patients with typical respiratory problems and a detail…

Norrie gene product is necessary for regression of hyaloid vessels.

2004

To investigate the nature and origin of the vitreous membranes in mice with knock-out of the Norrie gene product (ND mice).Eighty-two eyes of ND mice of different age groups (postnatal day [P]0-13 months) and 95 age-matched wild-type control mice were investigated. In vitreoretinal wholemounts and in sagittal sections, vessels and free cells were visualized by labeling for lectin. In addition, staining with a marker for macrophages (F4/80) and collagen XVIII/endostatin known to be involved in regression of hyaloid vessels was performed for light and electron microscopic investigations. Endostatin expression was confirmed by Western blot analysis.Wild-type controls showed the typical pattern…

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.

2015

Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…